ID
stringlengths 13
17
| question
stringlengths 88
1.13k
| answer
stringlengths 6
156
| reference_sequence
stringlengths 4.1k
4.1k
| variant_sequence
stringlengths 4.1k
4.1k
|
|---|---|---|---|---|
Task1_train_17400
|
Here is a genetic alteration in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; Type 2 collagenopathy
|
TATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTCTGTCAGTCCCTACACCCCACCCACACAGCCCACATGCCACATGGAAGCTCCTTCTACCAACATGGGGGTGTTCCCAGGCCTGCGAACCATCCTCTGCGCAGCCTGCTGGGGCCTTCCCATCTGCACGCCAGGAGCCCTTCCTTGAGGGAACAATTCTTGGAGTGCAGCGTTACCCACCTGAGGCCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAA
|
TATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCTGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTCTGTCAGTCCCTACACCCCACCCACACAGCCCACATGCCACATGGAAGCTCCTTCTACCAACATGGGGGTGTTCCCAGGCCTGCGAACCATCCTCTGCGCAGCCTGCTGGGGCCTTCCCATCTGCACGCCAGGAGCCCTTCCTTGAGGGAACAATTCTTGGAGTGCAGCGTTACCCACCTGAGGCCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAA
|
Task1_train_17401
|
Here’s a variant in COL2A1 (collagen type II alpha 1 chain) located on Chromosome 12. What is the predicted biological effect — harmless or disease-causing?
|
Pathogenic; not specified
|
TATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTCTGTCAGTCCCTACACCCCACCCACACAGCCCACATGCCACATGGAAGCTCCTTCTACCAACATGGGGGTGTTCCCAGGCCTGCGAACCATCCTCTGCGCAGCCTGCTGGGGCCTTCCCATCTGCACGCCAGGAGCCCTTCCTTGAGGGAACAATTCTTGGAGTGCAGCGTTACCCACCTGAGGCCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAA
|
TATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCTGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTCTGTCAGTCCCTACACCCCACCCACACAGCCCACATGCCACATGGAAGCTCCTTCTACCAACATGGGGGTGTTCCCAGGCCTGCGAACCATCCTCTGCGCAGCCTGCTGGGGCCTTCCCATCTGCACGCCAGGAGCCCTTCCTTGAGGGAACAATTCTTGGAGTGCAGCGTTACCCACCTGAGGCCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAA
|
Task1_train_17402
|
Consider a variant on Chromosome 12 in gene COL2A1 (collagen type II alpha 1 chain). Determine its clinical classification and disease relevance.
|
Pathogenic; not provided
|
TATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTCTGTCAGTCCCTACACCCCACCCACACAGCCCACATGCCACATGGAAGCTCCTTCTACCAACATGGGGGTGTTCCCAGGCCTGCGAACCATCCTCTGCGCAGCCTGCTGGGGCCTTCCCATCTGCACGCCAGGAGCCCTTCCTTGAGGGAACAATTCTTGGAGTGCAGCGTTACCCACCTGAGGCCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAACCCTGGAG
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TATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCATCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTCTGTCAGTCCCTACACCCCACCCACACAGCCCACATGCCACATGGAAGCTCCTTCTACCAACATGGGGGTGTTCCCAGGCCTGCGAACCATCCTCTGCGCAGCCTGCTGGGGCCTTCCCATCTGCACGCCAGGAGCCCTTCCTTGAGGGAACAATTCTTGGAGTGCAGCGTTACCCACCTGAGGCCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAACCCTGGAG
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Task1_train_17403
|
The gene COL2A1 (collagen type II alpha 1 chain) is located on Chromosome 12, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Spondyloepiphyseal dysplasia congenita
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CCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTCTGTCAGTCCCTACACCCCACCCACACAGCCCACATGCCACATGGAAGCTCCTTCTACCAACATGGGGGTGTTCCCAGGCCTGCGAACCATCCTCTGCGCAGCCTGCTGGGGCCTTCCCATCTGCACGCCAGGAGCCCTTCCTTGAGGGAACAATTCTTGGAGTGCAGCGTTACCCACCTGAGGCCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAACCCTGGAGCTCTTCCAGAAGAGCAGGAGACTCTGTGAGTATCTGCGTGTGTGT
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CCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGAACATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTCTGTCAGTCCCTACACCCCACCCACACAGCCCACATGCCACATGGAAGCTCCTTCTACCAACATGGGGGTGTTCCCAGGCCTGCGAACCATCCTCTGCGCAGCCTGCTGGGGCCTTCCCATCTGCACGCCAGGAGCCCTTCCTTGAGGGAACAATTCTTGGAGTGCAGCGTTACCCACCTGAGGCCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAACCCTGGAGCTCTTCCAGAAGAGCAGGAGACTCTGTGAGTATCTGCGTGTGTGT
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Task1_train_17404
|
This alteration in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; not provided
|
AAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTCTGTCAGTCCCTACACCCCACCCACACAGCCCACATGCCACATGGAAGCTCCTTCTACCAACATGGGGGTGTTCCCAGGCCTGCGAACCATCCTCTGCGCAGCCTGCTGGGGCCTTCCCATCTGCACGCCAGGAGCCCTTCCTTGAGGGAACAATTCTTGGAGTGCAGCGTTACCCACCTGAGGCCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAACCCTGGAGCTCTTCCAGAAGAGCAGGAGACTCTGTGAGTATCTGCGTGTGTGTCCTGGTCTGGACATGATGGTTCTATTAGTATGGAGGCGGGAAAGGAGAGGAGAGGAGCATCCATTTCCCTCCCTGACAAGCTCCGATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGC
|
AAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGGCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTCTGTCAGTCCCTACACCCCACCCACACAGCCCACATGCCACATGGAAGCTCCTTCTACCAACATGGGGGTGTTCCCAGGCCTGCGAACCATCCTCTGCGCAGCCTGCTGGGGCCTTCCCATCTGCACGCCAGGAGCCCTTCCTTGAGGGAACAATTCTTGGAGTGCAGCGTTACCCACCTGAGGCCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAACCCTGGAGCTCTTCCAGAAGAGCAGGAGACTCTGTGAGTATCTGCGTGTGTGTCCTGGTCTGGACATGATGGTTCTATTAGTATGGAGGCGGGAAAGGAGAGGAGAGGAGCATCCATTTCCCTCCCTGACAAGCTCCGATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGC
|
Task1_train_17405
|
A genetic alteration is present in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved?
|
Pathogenic; not provided
|
AAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTCTGTCAGTCCCTACACCCCACCCACACAGCCCACATGCCACATGGAAGCTCCTTCTACCAACATGGGGGTGTTCCCAGGCCTGCGAACCATCCTCTGCGCAGCCTGCTGGGGCCTTCCCATCTGCACGCCAGGAGCCCTTCCTTGAGGGAACAATTCTTGGAGTGCAGCGTTACCCACCTGAGGCCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAACCCTGGAGCTCTTCCAGAAGAGCAGGAGACTCTGTGAGTATCTGCGTGTGTGTCCTGGTCTGGACATGATGGTTCTATTAGTATGGAGGCGGGAAAGGAGAGGAGAGGAGCATCCATTTCCCTCCCTGACAAGCTCCGATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGC
|
AAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGTCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTCTGTCAGTCCCTACACCCCACCCACACAGCCCACATGCCACATGGAAGCTCCTTCTACCAACATGGGGGTGTTCCCAGGCCTGCGAACCATCCTCTGCGCAGCCTGCTGGGGCCTTCCCATCTGCACGCCAGGAGCCCTTCCTTGAGGGAACAATTCTTGGAGTGCAGCGTTACCCACCTGAGGCCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAACCCTGGAGCTCTTCCAGAAGAGCAGGAGACTCTGTGAGTATCTGCGTGTGTGTCCTGGTCTGGACATGATGGTTCTATTAGTATGGAGGCGGGAAAGGAGAGGAGAGGAGCATCCATTTCCCTCCCTGACAAGCTCCGATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGC
|
Task1_train_17406
|
This mutation occurs in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Does this change lead to a known medical condition, or is it benign?
|
Pathogenic; Spondyloepimetaphyseal dysplasia, Strudwick type
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AGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTCTGTCAGTCCCTACACCCCACCCACACAGCCCACATGCCACATGGAAGCTCCTTCTACCAACATGGGGGTGTTCCCAGGCCTGCGAACCATCCTCTGCGCAGCCTGCTGGGGCCTTCCCATCTGCACGCCAGGAGCCCTTCCTTGAGGGAACAATTCTTGGAGTGCAGCGTTACCCACCTGAGGCCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAACCCTGGAGCTCTTCCAGAAGAGCAGGAGACTCTGTGAGTATCTGCGTGTGTGTCCTGGTCTGGACATGATGGTTCTATTAGTATGGAGGCGGGAAAGGAGAGGAGAGGAGCATCCATTTCCCTCCCTGACAAGCTCCGATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCT
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AGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCATGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTCTGTCAGTCCCTACACCCCACCCACACAGCCCACATGCCACATGGAAGCTCCTTCTACCAACATGGGGGTGTTCCCAGGCCTGCGAACCATCCTCTGCGCAGCCTGCTGGGGCCTTCCCATCTGCACGCCAGGAGCCCTTCCTTGAGGGAACAATTCTTGGAGTGCAGCGTTACCCACCTGAGGCCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAACCCTGGAGCTCTTCCAGAAGAGCAGGAGACTCTGTGAGTATCTGCGTGTGTGTCCTGGTCTGGACATGATGGTTCTATTAGTATGGAGGCGGGAAAGGAGAGGAGAGGAGCATCCATTTCCCTCCCTGACAAGCTCCGATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCT
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Task1_train_17407
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Given this variant in gene COL2A1 (collagen type II alpha 1 chain) on Chromosome 12, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Stickler syndrome type 1
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AGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTCTGTCAGTCCCTACACCCCACCCACACAGCCCACATGCCACATGGAAGCTCCTTCTACCAACATGGGGGTGTTCCCAGGCCTGCGAACCATCCTCTGCGCAGCCTGCTGGGGCCTTCCCATCTGCACGCCAGGAGCCCTTCCTTGAGGGAACAATTCTTGGAGTGCAGCGTTACCCACCTGAGGCCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAACCCTGGAGCTCTTCCAGAAGAGCAGGAGACTCTGTGAGTATCTGCGTGTGTGTCCTGGTCTGGACATGATGGTTCTATTAGTATGGAGGCGGGAAAGGAGAGGAGAGGAGCATCCATTTCCCTCCCTGACAAGCTCCGATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACC
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AGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCAGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTCTGTCAGTCCCTACACCCCACCCACACAGCCCACATGCCACATGGAAGCTCCTTCTACCAACATGGGGGTGTTCCCAGGCCTGCGAACCATCCTCTGCGCAGCCTGCTGGGGCCTTCCCATCTGCACGCCAGGAGCCCTTCCTTGAGGGAACAATTCTTGGAGTGCAGCGTTACCCACCTGAGGCCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAACCCTGGAGCTCTTCCAGAAGAGCAGGAGACTCTGTGAGTATCTGCGTGTGTGTCCTGGTCTGGACATGATGGTTCTATTAGTATGGAGGCGGGAAAGGAGAGGAGAGGAGCATCCATTTCCCTCCCTGACAAGCTCCGATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACC
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Task1_train_17408
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A change on Chromosome 12 affects gene COL2A1 (collagen type II alpha 1 chain). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Myopia
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AGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTCTGTCAGTCCCTACACCCCACCCACACAGCCCACATGCCACATGGAAGCTCCTTCTACCAACATGGGGGTGTTCCCAGGCCTGCGAACCATCCTCTGCGCAGCCTGCTGGGGCCTTCCCATCTGCACGCCAGGAGCCCTTCCTTGAGGGAACAATTCTTGGAGTGCAGCGTTACCCACCTGAGGCCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAACCCTGGAGCTCTTCCAGAAGAGCAGGAGACTCTGTGAGTATCTGCGTGTGTGTCCTGGTCTGGACATGATGGTTCTATTAGTATGGAGGCGGGAAAGGAGAGGAGAGGAGCATCCATTTCCCTCCCTGACAAGCTCCGATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACC
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AGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCAGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTCTGTCAGTCCCTACACCCCACCCACACAGCCCACATGCCACATGGAAGCTCCTTCTACCAACATGGGGGTGTTCCCAGGCCTGCGAACCATCCTCTGCGCAGCCTGCTGGGGCCTTCCCATCTGCACGCCAGGAGCCCTTCCTTGAGGGAACAATTCTTGGAGTGCAGCGTTACCCACCTGAGGCCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAACCCTGGAGCTCTTCCAGAAGAGCAGGAGACTCTGTGAGTATCTGCGTGTGTGTCCTGGTCTGGACATGATGGTTCTATTAGTATGGAGGCGGGAAAGGAGAGGAGAGGAGCATCCATTTCCCTCCCTGACAAGCTCCGATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACC
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Task1_train_17409
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This mutation occurs in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Achondrogenesis type II
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TCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTCTGTCAGTCCCTACACCCCACCCACACAGCCCACATGCCACATGGAAGCTCCTTCTACCAACATGGGGGTGTTCCCAGGCCTGCGAACCATCCTCTGCGCAGCCTGCTGGGGCCTTCCCATCTGCACGCCAGGAGCCCTTCCTTGAGGGAACAATTCTTGGAGTGCAGCGTTACCCACCTGAGGCCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAACCCTGGAGCTCTTCCAGAAGAGCAGGAGACTCTGTGAGTATCTGCGTGTGTGTCCTGGTCTGGACATGATGGTTCTATTAGTATGGAGGCGGGAAAGGAGAGGAGAGGAGCATCCATTTCCCTCCCTGACAAGCTCCGATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTA
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TCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCGTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTCTGTCAGTCCCTACACCCCACCCACACAGCCCACATGCCACATGGAAGCTCCTTCTACCAACATGGGGGTGTTCCCAGGCCTGCGAACCATCCTCTGCGCAGCCTGCTGGGGCCTTCCCATCTGCACGCCAGGAGCCCTTCCTTGAGGGAACAATTCTTGGAGTGCAGCGTTACCCACCTGAGGCCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAACCCTGGAGCTCTTCCAGAAGAGCAGGAGACTCTGTGAGTATCTGCGTGTGTGTCCTGGTCTGGACATGATGGTTCTATTAGTATGGAGGCGGGAAAGGAGAGGAGAGGAGCATCCATTTCCCTCCCTGACAAGCTCCGATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTA
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Task1_train_17410
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A mutation in COL2A1 (collagen type II alpha 1 chain), located on Chromosome 12, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Spondyloepiphyseal dysplasia congenita
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TCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTCTGTCAGTCCCTACACCCCACCCACACAGCCCACATGCCACATGGAAGCTCCTTCTACCAACATGGGGGTGTTCCCAGGCCTGCGAACCATCCTCTGCGCAGCCTGCTGGGGCCTTCCCATCTGCACGCCAGGAGCCCTTCCTTGAGGGAACAATTCTTGGAGTGCAGCGTTACCCACCTGAGGCCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAACCCTGGAGCTCTTCCAGAAGAGCAGGAGACTCTGTGAGTATCTGCGTGTGTGTCCTGGTCTGGACATGATGGTTCTATTAGTATGGAGGCGGGAAAGGAGAGGAGAGGAGCATCCATTTCCCTCCCTGACAAGCTCCGATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTA
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TCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCTTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTCTGTCAGTCCCTACACCCCACCCACACAGCCCACATGCCACATGGAAGCTCCTTCTACCAACATGGGGGTGTTCCCAGGCCTGCGAACCATCCTCTGCGCAGCCTGCTGGGGCCTTCCCATCTGCACGCCAGGAGCCCTTCCTTGAGGGAACAATTCTTGGAGTGCAGCGTTACCCACCTGAGGCCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAACCCTGGAGCTCTTCCAGAAGAGCAGGAGACTCTGTGAGTATCTGCGTGTGTGTCCTGGTCTGGACATGATGGTTCTATTAGTATGGAGGCGGGAAAGGAGAGGAGAGGAGCATCCATTTCCCTCCCTGACAAGCTCCGATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTA
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Task1_train_17411
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Given this context: Chromosome 12, gene COL2A1 (collagen type II alpha 1 chain) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; not provided
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CTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTCTGTCAGTCCCTACACCCCACCCACACAGCCCACATGCCACATGGAAGCTCCTTCTACCAACATGGGGGTGTTCCCAGGCCTGCGAACCATCCTCTGCGCAGCCTGCTGGGGCCTTCCCATCTGCACGCCAGGAGCCCTTCCTTGAGGGAACAATTCTTGGAGTGCAGCGTTACCCACCTGAGGCCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAACCCTGGAGCTCTTCCAGAAGAGCAGGAGACTCTGTGAGTATCTGCGTGTGTGTCCTGGTCTGGACATGATGGTTCTATTAGTATGGAGGCGGGAAAGGAGAGGAGAGGAGCATCCATTTCCCTCCCTGACAAGCTCCGATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCAC
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CTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTCTGTCAGTCCCTACACCCCACCCACACAGCCCACATGCCACATGGAAGCTCCTTCTACCAACATGGGGGTGTTCCCAGGCCTGCGAACCATCCTCTGCGCAGCCTGCTGGGGCCTTCCCATCTGCACGCCAGGAGCCCTTCCTTGAGGGAACAATTCTTGGAGTGCAGCGTTACCCACCTGAGGCTCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAACCCTGGAGCTCTTCCAGAAGAGCAGGAGACTCTGTGAGTATCTGCGTGTGTGTCCTGGTCTGGACATGATGGTTCTATTAGTATGGAGGCGGGAAAGGAGAGGAGAGGAGCATCCATTTCCCTCCCTGACAAGCTCCGATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCAC
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Task1_train_17412
|
This alteration occurs within gene COL2A1 (collagen type II alpha 1 chain) located on Chromosome 12. Is it associated with a disease or is it a benign variant?
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Pathogenic; Stickler syndrome type 1
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TCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTCTGTCAGTCCCTACACCCCACCCACACAGCCCACATGCCACATGGAAGCTCCTTCTACCAACATGGGGGTGTTCCCAGGCCTGCGAACCATCCTCTGCGCAGCCTGCTGGGGCCTTCCCATCTGCACGCCAGGAGCCCTTCCTTGAGGGAACAATTCTTGGAGTGCAGCGTTACCCACCTGAGGCCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAACCCTGGAGCTCTTCCAGAAGAGCAGGAGACTCTGTGAGTATCTGCGTGTGTGTCCTGGTCTGGACATGATGGTTCTATTAGTATGGAGGCGGGAAAGGAGAGGAGAGGAGCATCCATTTCCCTCCCTGACAAGCTCCGATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACC
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TCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTCTGTCAGTCCCTACACCCCACCCACACAGCCCACATGCCACATGGAAGCTCCTTCTACCAACATGGGGGTGTTCCCAGGCCTGCGAACCATCCTCTGCGCAGCCTGCTGGGGCCTTCCCATCTGCACGCCAGGAGCCCTTCCTTGAGGGAACAATTCTTGGAGTGCAGCGTTACCCACCTGAGGCCAAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAACCCTGGAGCTCTTCCAGAAGAGCAGGAGACTCTGTGAGTATCTGCGTGTGTGTCCTGGTCTGGACATGATGGTTCTATTAGTATGGAGGCGGGAAAGGAGAGGAGAGGAGCATCCATTTCCCTCCCTGACAAGCTCCGATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACC
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Task1_train_17413
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A variant has been detected on Chromosome 12 in COL2A1 (collagen type II alpha 1 chain). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; not provided
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CATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTCTGTCAGTCCCTACACCCCACCCACACAGCCCACATGCCACATGGAAGCTCCTTCTACCAACATGGGGGTGTTCCCAGGCCTGCGAACCATCCTCTGCGCAGCCTGCTGGGGCCTTCCCATCTGCACGCCAGGAGCCCTTCCTTGAGGGAACAATTCTTGGAGTGCAGCGTTACCCACCTGAGGCCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAACCCTGGAGCTCTTCCAGAAGAGCAGGAGACTCTGTGAGTATCTGCGTGTGTGTCCTGGTCTGGACATGATGGTTCTATTAGTATGGAGGCGGGAAAGGAGAGGAGAGGAGCATCCATTTCCCTCCCTGACAAGCTCCGATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAG
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CATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTCTGTCAGTCCCTACACCCCACCCACACAGCCCACATGCCACATGGAAGCTCCTTCTACCAACATGGGGGTGTTCCCAGGCCTGCGAACCATCCTCTGCGCAGCCTGCTGGGGCCTTCCCATCTGCACGCCAGGAGCCCTTCCTTGAGGGAACAATTCTTGGAGTGCAGCGTTACCCACCTGAGGCCCAGGTGCTACAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAACCCTGGAGCTCTTCCAGAAGAGCAGGAGACTCTGTGAGTATCTGCGTGTGTGTCCTGGTCTGGACATGATGGTTCTATTAGTATGGAGGCGGGAAAGGAGAGGAGAGGAGCATCCATTTCCCTCCCTGACAAGCTCCGATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAG
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Task1_train_17414
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This is a variant in COL2A1 (collagen type II alpha 1 chain), located on Chromosome 12. Is this mutation a likely cause of disease or not?
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Pathogenic; not provided
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ACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTCTGTCAGTCCCTACACCCCACCCACACAGCCCACATGCCACATGGAAGCTCCTTCTACCAACATGGGGGTGTTCCCAGGCCTGCGAACCATCCTCTGCGCAGCCTGCTGGGGCCTTCCCATCTGCACGCCAGGAGCCCTTCCTTGAGGGAACAATTCTTGGAGTGCAGCGTTACCCACCTGAGGCCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAACCCTGGAGCTCTTCCAGAAGAGCAGGAGACTCTGTGAGTATCTGCGTGTGTGTCCTGGTCTGGACATGATGGTTCTATTAGTATGGAGGCGGGAAAGGAGAGGAGAGGAGCATCCATTTCCCTCCCTGACAAGCTCCGATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGAC
|
ACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTCTGTCAGTCCCTACACCCCACCCACACAGCCCACATGCCACATGGAAGCTCCTTCTACCAACATGGGGGTGTTCCCAGGCCTGCGAACCATCCTCTGCGCAGCCTGCTGGGGCCTTCCCATCTGCACGCCAGGAGCCCTTCCTTGAGGGAACAATTCTTGGAGTGCAGCGTTACCCACCTGAGGCCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCATCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAACCCTGGAGCTCTTCCAGAAGAGCAGGAGACTCTGTGAGTATCTGCGTGTGTGTCCTGGTCTGGACATGATGGTTCTATTAGTATGGAGGCGGGAAAGGAGAGGAGAGGAGCATCCATTTCCCTCCCTGACAAGCTCCGATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGAC
|
Task1_train_17415
|
A variant has been detected on Chromosome 12 in COL2A1 (collagen type II alpha 1 chain). What is its effect — pathogenic or benign? If pathogenic, name the disease.
|
Pathogenic; not provided
|
GCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTCTGTCAGTCCCTACACCCCACCCACACAGCCCACATGCCACATGGAAGCTCCTTCTACCAACATGGGGGTGTTCCCAGGCCTGCGAACCATCCTCTGCGCAGCCTGCTGGGGCCTTCCCATCTGCACGCCAGGAGCCCTTCCTTGAGGGAACAATTCTTGGAGTGCAGCGTTACCCACCTGAGGCCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAACCCTGGAGCTCTTCCAGAAGAGCAGGAGACTCTGTGAGTATCTGCGTGTGTGTCCTGGTCTGGACATGATGGTTCTATTAGTATGGAGGCGGGAAAGGAGAGGAGAGGAGCATCCATTTCCCTCCCTGACAAGCTCCGATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGCCGGGGAGGCCACGGGGACCCTGGAGGCCCTGGGCACCGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACCCTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTG
|
GCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTCTGTCAGTCCCTACACCCCACCCACACAGCCCACATGCCACATGGAAGCTCCTTCTACCAACATGGGGGTGTTCCCAGGCCTGCGAACCATCCTCTGCGCAGCCTGCTGGGGCCTTCCCATCTGCACGCCAGGAGCCCTTCCTTGAGGGAACAATTCTTGGAGTGCAGCGTTACCCACCTGAGGCCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAACCCTGGAGCTCTTCCAGAAGAGCAGGAGACTCTGTGAGTATCTGCGTGTGTGTCCTGGTCTGGACATGATGGTTCTATTAGTATGGAGGCGGGAAAGGAGAGGAGAGGAGCATCCATTTCCCTCCCTGACAAGCTCCGATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTACGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGCCGGGGAGGCCACGGGGACCCTGGAGGCCCTGGGCACCGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACCCTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTG
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Task1_train_17416
|
This sequence variant lies in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; not provided
|
CTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTCTGTCAGTCCCTACACCCCACCCACACAGCCCACATGCCACATGGAAGCTCCTTCTACCAACATGGGGGTGTTCCCAGGCCTGCGAACCATCCTCTGCGCAGCCTGCTGGGGCCTTCCCATCTGCACGCCAGGAGCCCTTCCTTGAGGGAACAATTCTTGGAGTGCAGCGTTACCCACCTGAGGCCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAACCCTGGAGCTCTTCCAGAAGAGCAGGAGACTCTGTGAGTATCTGCGTGTGTGTCCTGGTCTGGACATGATGGTTCTATTAGTATGGAGGCGGGAAAGGAGAGGAGAGGAGCATCCATTTCCCTCCCTGACAAGCTCCGATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGCCGGGGAGGCCACGGGGACCCTGGAGGCCCTGGGCACCGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACCCTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTGG
|
CTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTCTGTCAGTCCCTACACCCCACCCACACAGCCCACATGCCACATGGAAGCTCCTTCTACCAACATGGGGGTGTTCCCAGGCCTGCGAACCATCCTCTGCGCAGCCTGCTGGGGCCTTCCCATCTGCACGCCAGGAGCCCTTCCTTGAGGGAACAATTCTTGGAGTGCAGCGTTACCCACCTGAGGCCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAACCCTGGAGCTCTTCCAGAAGAGCAGGAGACTCTGTGAGTATCTGCGTGTGTGTCCTGGTCTGGACATGATGGTTCTATTAGTATGGAGGCGGGAAAGGAGAGGAGAGGAGCATCCATTTCCCTCCCTGACAAGCTCCGATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCGGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGCCGGGGAGGCCACGGGGACCCTGGAGGCCCTGGGCACCGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACCCTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTGG
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Task1_train_17417
|
A variant has been detected on Chromosome 12 in COL2A1 (collagen type II alpha 1 chain). What is its effect — pathogenic or benign? If pathogenic, name the disease.
|
Pathogenic; not provided
|
AAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTCTGTCAGTCCCTACACCCCACCCACACAGCCCACATGCCACATGGAAGCTCCTTCTACCAACATGGGGGTGTTCCCAGGCCTGCGAACCATCCTCTGCGCAGCCTGCTGGGGCCTTCCCATCTGCACGCCAGGAGCCCTTCCTTGAGGGAACAATTCTTGGAGTGCAGCGTTACCCACCTGAGGCCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAACCCTGGAGCTCTTCCAGAAGAGCAGGAGACTCTGTGAGTATCTGCGTGTGTGTCCTGGTCTGGACATGATGGTTCTATTAGTATGGAGGCGGGAAAGGAGAGGAGAGGAGCATCCATTTCCCTCCCTGACAAGCTCCGATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGCCGGGGAGGCCACGGGGACCCTGGAGGCCCTGGGCACCGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACCCTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAA
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AAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTCTGTCAGTCCCTACACCCCACCCACACAGCCCACATGCCACATGGAAGCTCCTTCTACCAACATGGGGGTGTTCCCAGGCCTGCGAACCATCCTCTGCGCAGCCTGCTGGGGCCTTCCCATCTGCACGCCAGGAGCCCTTCCTTGAGGGAACAATTCTTGGAGTGCAGCGTTACCCACCTGAGGCCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAACCCTGGAGCTCTTCCAGAAGAGCAGGAGACTCTGTGAGTATCTGCGTGTGTGTCCTGGTCTGGACATGATGGTTCTATTAGTATGGAGGCGGGAAAGGAGAGGAGAGGAGCATCCATTTCCCTCCCTGACAAGCTCCGATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACTATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGCCGGGGAGGCCACGGGGACCCTGGAGGCCCTGGGCACCGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACCCTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAA
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Task1_train_17418
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This mutation occurs in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Hypochondrogenesis
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AGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTCTGTCAGTCCCTACACCCCACCCACACAGCCCACATGCCACATGGAAGCTCCTTCTACCAACATGGGGGTGTTCCCAGGCCTGCGAACCATCCTCTGCGCAGCCTGCTGGGGCCTTCCCATCTGCACGCCAGGAGCCCTTCCTTGAGGGAACAATTCTTGGAGTGCAGCGTTACCCACCTGAGGCCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAACCCTGGAGCTCTTCCAGAAGAGCAGGAGACTCTGTGAGTATCTGCGTGTGTGTCCTGGTCTGGACATGATGGTTCTATTAGTATGGAGGCGGGAAAGGAGAGGAGAGGAGCATCCATTTCCCTCCCTGACAAGCTCCGATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGCCGGGGAGGCCACGGGGACCCTGGAGGCCCTGGGCACCGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACCCTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACT
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AGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTCTGTCAGTCCCTACACCCCACCCACACAGCCCACATGCCACATGGAAGCTCCTTCTACCAACATGGGGGTGTTCCCAGGCCTGCGAACCATCCTCTGCGCAGCCTGCTGGGGCCTTCCCATCTGCACGCCAGGAGCCCTTCCTTGAGGGAACAATTCTTGGAGTGCAGCGTTACCCACCTGAGGCCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAACCCTGGAGCTCTTCCAGAAGAGCAGGAGACTCTGTGAGTATCTGCGTGTGTGTCCTGGTCTGGACATGATGGTTCTATTAGTATGGAGGCGGGAAAGGAGAGGAGAGGAGCATCCATTTCCCTCCCTGACAAGCTCCGATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCTTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGCCGGGGAGGCCACGGGGACCCTGGAGGCCCTGGGCACCGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACCCTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACT
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Task1_train_17419
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A mutation on Chromosome 12 affecting COL2A1 (collagen type II alpha 1 chain) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; not provided
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AAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTCTGTCAGTCCCTACACCCCACCCACACAGCCCACATGCCACATGGAAGCTCCTTCTACCAACATGGGGGTGTTCCCAGGCCTGCGAACCATCCTCTGCGCAGCCTGCTGGGGCCTTCCCATCTGCACGCCAGGAGCCCTTCCTTGAGGGAACAATTCTTGGAGTGCAGCGTTACCCACCTGAGGCCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAACCCTGGAGCTCTTCCAGAAGAGCAGGAGACTCTGTGAGTATCTGCGTGTGTGTCCTGGTCTGGACATGATGGTTCTATTAGTATGGAGGCGGGAAAGGAGAGGAGAGGAGCATCCATTTCCCTCCCTGACAAGCTCCGATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGCCGGGGAGGCCACGGGGACCCTGGAGGCCCTGGGCACCGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACCCTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCC
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AAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTCTGTCAGTCCCTACACCCCACCCACACAGCCCACATGCCACATGGAAGCTCCTTCTACCAACATGGGGGTGTTCCCAGGCCTGCGAACCATCCTCTGCGCAGCCTGCTGGGGCCTTCCCATCTGCACGCCAGGAGCCCTTCCTTGAGGGAACAATTCTTGGAGTGCAGCGTTACCCACCTGAGGCCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAACCCTGGAGCTCTTCCAGAAGAGCAGGAGACTCTGTGAGTATCTGCGTGTGTGTCCTGGTCTGGACATGATGGTTCTATTAGTATGGAGGCGGGAAAGGAGAGGAGAGGAGCATCCATTTCCCTCCCTGACAAGCTCCGATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCAGCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGCCGGGGAGGCCACGGGGACCCTGGAGGCCCTGGGCACCGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACCCTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCC
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Task1_train_17420
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Gene COL2A1 (collagen type II alpha 1 chain), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Type 2 collagenopathy
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TGCTGGGGCCTTCCCATCTGCACGCCAGGAGCCCTTCCTTGAGGGAACAATTCTTGGAGTGCAGCGTTACCCACCTGAGGCCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAACCCTGGAGCTCTTCCAGAAGAGCAGGAGACTCTGTGAGTATCTGCGTGTGTGTCCTGGTCTGGACATGATGGTTCTATTAGTATGGAGGCGGGAAAGGAGAGGAGAGGAGCATCCATTTCCCTCCCTGACAAGCTCCGATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGCCGGGGAGGCCACGGGGACCCTGGAGGCCCTGGGCACCGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACCCTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTT
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TGCTGGGGCCTTCCCATCTGCACGCCAGGAGCCCTTCCTTGAGGGAACAATTCTTGGAGTGCAGCGTTACCCACCTGAGGCCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAACCCTGGAGCTCTTCCAGAAGAGCAGGAGACTCTGTGAGTATCTGCGTGTGTGTCCTGGTCTGGACATGATGGTTCTATTAGTATGGAGGCGGGAAAGGAGAGGAGAGGAGCATCCATTTCCCTCCCTGACAAGCTCCGATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACGAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGCCGGGGAGGCCACGGGGACCCTGGAGGCCCTGGGCACCGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACCCTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTT
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Task1_train_17421
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Here is a mutation in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Connective tissue disorder
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GGAGCCCTTCCTTGAGGGAACAATTCTTGGAGTGCAGCGTTACCCACCTGAGGCCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAACCCTGGAGCTCTTCCAGAAGAGCAGGAGACTCTGTGAGTATCTGCGTGTGTGTCCTGGTCTGGACATGATGGTTCTATTAGTATGGAGGCGGGAAAGGAGAGGAGAGGAGCATCCATTTCCCTCCCTGACAAGCTCCGATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGCCGGGGAGGCCACGGGGACCCTGGAGGCCCTGGGCACCGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACCCTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTG
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GGAGCCCTTCCTTGAGGGAACAATTCTTGGAGTGCAGCGTTACCCACCTGAGGCCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAACCCTGGAGCTCTTCCAGAAGAGCAGGAGACTCTGTGAGTATCTGCGTGTGTGTCCTGGTCTGGACATGATGGTTCTATTAGTATGGAGGCGGGAAAGGAGAGGAGAGGAGCATCCATTTCCCTCCCTGACAAGCTCCGATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCTCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGCCGGGGAGGCCACGGGGACCCTGGAGGCCCTGGGCACCGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACCCTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTG
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Task1_train_17422
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Given a variant located on Chromosome 12 and affecting COL2A1 (collagen type II alpha 1 chain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; not provided
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AGCGTTACCCACCTGAGGCCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAACCCTGGAGCTCTTCCAGAAGAGCAGGAGACTCTGTGAGTATCTGCGTGTGTGTCCTGGTCTGGACATGATGGTTCTATTAGTATGGAGGCGGGAAAGGAGAGGAGAGGAGCATCCATTTCCCTCCCTGACAAGCTCCGATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGCCGGGGAGGCCACGGGGACCCTGGAGGCCCTGGGCACCGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACCCTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGT
|
AGCGTTACCCACCTGAGGCCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAACCCTGGAGCTCTTCCAGAAGAGCAGGAGACTCTGTGAGTATCTGCGTGTGTGTCCTGGTCTGGACATGATGGTTCTATTAGTATGGAGGCGGGAAAGGAGAGGAGAGGAGCATCCATTTCCCTCCCTGACAAGCTCCGATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGACTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGCCGGGGAGGCCACGGGGACCCTGGAGGCCCTGGGCACCGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACCCTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGT
|
Task1_train_17423
|
A variant affecting Chromosome 12, within the gene COL2A1 (collagen type II alpha 1 chain), has been observed. Determine if it's benign or associated with disease.
|
Pathogenic; not provided
|
CCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAACCCTGGAGCTCTTCCAGAAGAGCAGGAGACTCTGTGAGTATCTGCGTGTGTGTCCTGGTCTGGACATGATGGTTCTATTAGTATGGAGGCGGGAAAGGAGAGGAGAGGAGCATCCATTTCCCTCCCTGACAAGCTCCGATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGCCGGGGAGGCCACGGGGACCCTGGAGGCCCTGGGCACCGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACCCTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGG
|
CCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCCATCAGCACCCTATAATGGGAAGGAGGAAGCAGGTGAATGAGGGGCAGGCTAAAACCCTGGAGCTCTTCCAGAAGAGCAGGAGACTCTGTGAGTATCTGCGTGTGTGTCCTGGTCTGGACATGATGGTTCTATTAGTATGGAGGCGGGAAAGGAGAGGAGAGGAGCATCCATTTCCCTCCCTGACAAGCTCCGATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCATCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGCCGGGGAGGCCACGGGGACCCTGGAGGCCCTGGGCACCGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACCCTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGG
|
Task1_train_17424
|
A mutation in COL2A1 (collagen type II alpha 1 chain), located on Chromosome 12, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
|
Pathogenic; not provided
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TCCCTCCCTGACAAGCTCCGATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGCCGGGGAGGCCACGGGGACCCTGGAGGCCCTGGGCACCGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACCCTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCC
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TCCCTCCCTGACAAGCTCCGATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGTCGGGGAGGCCACGGGGACCCTGGAGGCCCTGGGCACCGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACCCTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCC
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Task1_train_17425
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This variant lies on Chromosome 12 and affects the gene COL2A1 (collagen type II alpha 1 chain). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Namaqualand hip dysplasia
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AGCTCCGATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGCCGGGGAGGCCACGGGGACCCTGGAGGCCCTGGGCACCGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACCCTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCA
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AGCTCCGATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGCCGGGGAGGCCACAGGGACCCTGGAGGCCCTGGGCACCGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACCCTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCA
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Task1_train_17426
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Located on Chromosome 12, this mutation impacts COL2A1 (collagen type II alpha 1 chain). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Avascular necrosis of femoral head, primary, 1
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GATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGCCGGGGAGGCCACGGGGACCCTGGAGGCCCTGGGCACCGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACCCTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGG
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GATGCCCGAGGGTGCTGGATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGCCGGGGAGGCCACGGGGACTCTGGAGGCCCTGGGCACCGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACCCTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGG
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Task1_train_17427
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With a mutation on Chromosome 12 in gene COL2A1 (collagen type II alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; not provided
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GATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGCCGGGGAGGCCACGGGGACCCTGGAGGCCCTGGGCACCGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACCCTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCA
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GATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGCCGGGGAGGCCACGGGGACCCTGGAGGCCCTGGGCATCGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACCCTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCA
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Task1_train_17428
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Given a variant located on Chromosome 12 and affecting COL2A1 (collagen type II alpha 1 chain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; not provided
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ATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGCCGGGGAGGCCACGGGGACCCTGGAGGCCCTGGGCACCGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACCCTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCAC
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ATGTGGAACTGGCCTGAGTGGAGGGACCCAGGAGGATGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGCCGGGGAGGCCACGGGGACCCTGGAGGCCCTGGGCACGGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACCCTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCAC
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Task1_train_17429
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A variant was discovered on Chromosome 12, affecting COL2A1 (collagen type II alpha 1 chain). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Spondyloepiphyseal dysplasia congenita
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TGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGCCGGGGAGGCCACGGGGACCCTGGAGGCCCTGGGCACCGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACCCTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTA
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TGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGCCGGGGAGGCCACGGGGACCCTGGAGGCCCTGGGCACCGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACACTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTA
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Task1_train_17430
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A change on Chromosome 12 affects gene COL2A1 (collagen type II alpha 1 chain). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; not provided
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TGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGCCGGGGAGGCCACGGGGACCCTGGAGGCCCTGGGCACCGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACCCTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTA
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TGGACAGAGATACTCACAGGAGGCCCAGCAAATCCCGCTGGTCCGGGGGGCCCAGTCTCTCCACGTTCACCCTGTGAGAGAAGGGGGCATGGCGAGAGGTCAGGCCCCGCTGCCTGACCTGCTTCTGCTCCCCTCCAAGAGCCCCTTGGGCCCTGCCCAGCCTCCTGTTCCCCAGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGCCGGGGAGGCCACGGGGACCCTGGAGGCCCTGGGCACCGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACGCTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTA
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Task1_train_17431
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This mutation is located in gene COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; not provided
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AGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGCCGGGGAGGCCACGGGGACCCTGGAGGCCCTGGGCACCGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACCCTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGC
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AGAGACGGGGATCTGAAAGCAGCCTTAGTCCTGAACGCAGGCAGAGGCTCTGTTAACCCAAAAGCCCTCACCCTGAACACATGATGGGAGTGACGTGCCTTCCCCCTTCCCTTCCCATCTCTCCTCCCACCCTAGACCCAGCGGGTAGGGAGGGAGCCAGTGCCTGGCAGCACACAGGGCCACCAGGCAGCATGAGGGCCTGCACTGACTCCCTGGCTCTCTGGTTCCCAGGGGCCTCGGGCAGAGCCAGGCTCAGAGGGGCAGACACTCACCGGAGCGCCACGAGCACCAGCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGCCGGGGAGGCCACGGGGACCCTGGAGGCCCTGGGCACCGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACCCTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCTAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGC
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Task1_train_17432
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Consider a variant on Chromosome 12 in gene COL2A1 (collagen type II alpha 1 chain). Determine its clinical classification and disease relevance.
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Pathogenic; Spondyloepiphyseal dysplasia congenita
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GCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGCCGGGGAGGCCACGGGGACCCTGGAGGCCCTGGGCACCGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACCCTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAA
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GCACTTCCTGCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGCCGGGGAGGCCACGGGGACCCTGGAGGCCCTGGGCACCGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACCCTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCATCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAA
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Task1_train_17433
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This sequence variant lies in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it clinically significant, and what condition might it cause if any?
|
Pathogenic; not provided
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GCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGCCGGGGAGGCCACGGGGACCCTGGAGGCCCTGGGCACCGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACCCTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCT
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GCAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGCCGGGGAGGCCACGGGGACCCTGGAGGCCCTGGGCACCGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACCCTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGAGCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCT
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Task1_train_17434
|
This sequence variant lies in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it clinically significant, and what condition might it cause if any?
|
Pathogenic; not provided
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CAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGCCGGGGAGGCCACGGGGACCCTGGAGGCCCTGGGCACCGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACCCTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTC
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CAGGACCAGGAGGTCCAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGCCGGGGAGGCCACGGGGACCCTGGAGGCCCTGGGCACCGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACCCTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACAAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTC
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Task1_train_17435
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This gene mutation involves COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Stickler syndrome, type I, nonsyndromic ocular
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CAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGCCGGGGAGGCCACGGGGACCCTGGAGGCCCTGGGCACCGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACCCTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTT
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CAACTTCTCCCTGAGGGTGGGGAAGGGAGGAAGAGCTGGGGTAAGAAGGTGGGGAGGCAGAGTGGGAGAGGGCAAAGTGCATTTGGGGGGCCTTGCTCGTGGGAAGGGGGCTCCAGGTCCCCCTGGCACAGCCTGTGTTACTGTGCAGCCCATACCCGCACCCTCTCGAGGGCCTCTGCTGAATGTGTGTTTACCCCAGCCCAGTTGCCCCACCCAACAGGGAACACTGCCAGCGGCTTCACTTCTGAGAGGGCCCCCTCTTCACTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGCCGGGGAGGCCACGGGGACCCTGGAGGCCCTGGGCACCGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACCCTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAATCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTT
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Task1_train_17436
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A variant found in Chromosome 12 affects COL2A1 (collagen type II alpha 1 chain). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Achondrogenesis type II
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CTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGCCGGGGAGGCCACGGGGACCCTGGAGGCCCTGGGCACCGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACCCTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCA
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CTCCTACGGCCTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGCCGGGGAGGCCACGGGGACCCTGGAGGCCCTGGGCACCGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACCCTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCTCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCA
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Task1_train_17437
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A variant was discovered in gene COL2A1 (collagen type II alpha 1 chain), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; not provided
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CTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGCCGGGGAGGCCACGGGGACCCTGGAGGCCCTGGGCACCGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACCCTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAG
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CTTGGCCGAGGGTGACAGTGGTGAGGGAGGACAAGACAGAACCGCCTTTGGCAGGAGATAAGAAGGAGGTGTGACAGGGAGGCAAGGTGTGGAGAGGAAAGGAGCCGGGACTCACCTTCTCGCCATTAGCACCAGCTGGGCCAGGGGGGCCAATGGGACCTGTCAGGCCCTGCGGGGAGAGCAGGTAGAGGTGAGGGAGGCAGGCTGAGCCAGCCGAGCACGTGCGGCCCGGCACCAAGCCAACCTTGGTGCGTGCTCCCACCGCCTCCAGAGCTCCCACTTACCCTCTGGCCCCATTTTAACAGAGAAGTCCCTGCAGTTGCCCAGCCCCGACAGAGACAGGACCAGGGACCCCAGTGGCAGACTGCCCAGCCCTCTCTCCTGCTCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGCCGGGGAGGCCACGGGGACCCTGGAGGCCCTGGGCACCGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACCCTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACACTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAG
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Task1_train_17438
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Given this context: Chromosome 12, gene COL2A1 (collagen type II alpha 1 chain) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; not provided
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TCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGCCGGGGAGGCCACGGGGACCCTGGAGGCCCTGGGCACCGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACCCTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCA
|
TCTCCTGGGTGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGCCGGGGAGGCCACGGGGACCCTGGAGGCCCTGGGCACCGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACCCTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGTCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCA
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Task1_train_17439
|
Here is a genetic alteration in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; not provided
|
TGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGCCGGGGAGGCCACGGGGACCCTGGAGGCCCTGGGCACCGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACCCTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTC
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TGCAGGGCTAGGATCCTAATGCCCAGCAGTCCAGCAGCCCGCATTCACTTACTCGTCCACCATCCTTTCCAGGGGCTCCCTCAGGGCCTTTCTCACCAACGTCACCCTGAGGGAAGAGAAAACCAGCCGCCTCAGCCAGGCACCCCAGGACCCCCATGGTTTGCTCAGTCCCACCCAGGCTGGGGTGCTAGGGAAAGCCCAGTCCCTGCCCAAGAGGAATTTGCTGTGGTCTCAGGGTGGGTGAGGAGCAGCAGGGGTGAGATGAAGGAACAGGGGAAAGGATGTCACTAAAAGGCAGGGAGCTTTGGAAAGGAGTCTTTAAGCTCCTCAAAAAGGGCTAACAGAAACCTTCATCACCAGGTGCCATAAGGGAACGGAAGCGATCACAAGGGGCAGGAATGTGGCAAAGCCACAGCTTTGGTGAGAGGCTGTAACCTCAGTACTTACCCTGTCGCCTTTGGGCCCAGCGATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGCCGGGGAGGCCACGGGGACCCTGGAGGCCCTGGGCACCGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACCCTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTACTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTC
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Task1_train_17440
|
An alteration has been detected in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Avascular necrosis of femoral head, primary, 1
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GATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGCCGGGGAGGCCACGGGGACCCTGGAGGCCCTGGGCACCGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACCCTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCT
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GATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGCCGGGGAGGCCACGGGGACCCTGGAGGCCCTGGGCACCGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACCCTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTTCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCT
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Task1_train_17441
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The following genetic variant occurs in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Connective tissue disorder
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GATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGCCGGGGAGGCCACGGGGACCCTGGAGGCCCTGGGCACCGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACCCTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCT
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GATACCAGCTGCTCCCCTCTCGCCAGGCATTCCCTGAAGACCTGGAGGGCCCTGAGCCCCAGGGGGGCCTGCTGGGCCAGATGCACCCTGGGGAGGGAGGTAAGAGGGAGTCTGTAGTGGACAGCACCTCTCCCTGAACCCATGTTCATGGAGCCTGGGTAACCAGGGCCCCAAACCCCTCTTCCTTCCCTTCCTCCCATGTAGACCTCCTTTCCAGCTCCCCCCACTTCTGTTCTTCATTCCTCCTGAGCCCGCTCCTCTTCTCCCTGCTCAGTGGGACTCCCAGGCTACCACGAAGACCCCTACAGGATGCAGCCTCACTTACTTTGGGACCATCAGTGCCAGGAGTGCCGGGGAGGCCACGGGGACCCTGGAGGCCCTGGGCACCGGGAGAGCCACGTTCACCTGGGAAACCTCGTTCACCCTGCGGCAGAGACACCAAGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTTCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCT
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Task1_train_17442
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A variant was discovered in gene COL2A1 (collagen type II alpha 1 chain), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; not provided
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AGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGG
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AGAAGTGATCAACCAACAGCAGTGGGGGAGAAGGTCCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCGAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGG
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Task1_train_17443
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A variant has been detected on Chromosome 12 in COL2A1 (collagen type II alpha 1 chain). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; not provided
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CCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGC
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CCAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCTCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGC
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Task1_train_17444
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Assess the clinical impact of this variant on gene COL2A1 (collagen type II alpha 1 chain), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Spondyloepimetaphyseal dysplasia, Strudwick type
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CAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCC
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CAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCTCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCC
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Task1_train_17445
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This alteration in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Spondyloepiphyseal dysplasia congenita
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CAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCC
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CAGGGAGAAGCAGGGAGGTGGGGAAAGGAGCAGGAGCATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCTCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCC
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Task1_train_17446
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The variant affects gene COL2A1 (collagen type II alpha 1 chain), which is on Chromosome 12. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; not provided
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CATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCC
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CATAGGACCCAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACTAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCC
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Task1_train_17447
|
Located on Chromosome 12, this mutation impacts COL2A1 (collagen type II alpha 1 chain). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
|
Pathogenic; not provided
|
CAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCC
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CAGGGCAGGCCCAAGGAGGCAGCCCGCATTGGCCAACAGGATACTCACCCTGGGACCCACGAGGCCAGGGGCTCCAGCTTCACCGGGAACACCCTGGAGAACAAAGAAAGATGTGTGAGAGTGAAGGCTTCATATCACAGACCCCTGAACAATTCTCCACAGCAGGGCTGAATATCACTCCTCCCATGGGGGATTGTGTCATCTGTGGAGGCTGGGACATGGGTCCAGGACATTCCCAGGCCTCACAGGGCTCCTCATGCCCTCTTGCCCTTGCCTCCTAGGCATCAGAAAAGACCTTCCCATCTAAACAGGTTGCAGGTCCAAAGAGCCCCATACTCACCTGGTCACCTGGTTTTCCACCTTCACCTGGGGGACCAGGAGGGCCAGGAAGTCCCTAGAAGCCGAAGTGACAAGCGTTAGCAAAGGAGTGAGTTTGCTGCCCTGGCCCCCAGGGAGGCACAGTATAGGGCAGACCCAAAGAAAGGAAGCAGCAGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCTCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCC
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Task1_train_17448
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Chromosome 12 houses a mutation in gene COL2A1 (collagen type II alpha 1 chain). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
|
Pathogenic; not provided
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CAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGA
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CAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACTCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGA
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Task1_train_17449
|
This variant affects gene COL2A1 (collagen type II alpha 1 chain) located on Chromosome 12. Evaluate its biological effect and specify any disease association.
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Pathogenic; Achondrogenesis type II
|
TCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCAC
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TCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCAACGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCAC
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Task1_train_17450
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A mutation on Chromosome 12 affecting COL2A1 (collagen type II alpha 1 chain) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Achondrogenesis type II
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ACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGC
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ACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAATCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGC
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Task1_train_17451
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Given this context: Chromosome 12, gene COL2A1 (collagen type II alpha 1 chain) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; not specified
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CCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAAC
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CCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCTGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAAC
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Task1_train_17452
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This gene mutation involves COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Inborn genetic diseases
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TGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTC
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TGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACACTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTC
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Task1_train_17453
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A variant found in Chromosome 12 affects COL2A1 (collagen type II alpha 1 chain). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; not provided
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TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGC
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TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACAGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGC
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Task1_train_17454
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This sequence variant lies in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Legg-Calve-Perthes disease
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TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGC
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TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACTGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGC
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Task1_train_17455
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Gene COL2A1 (collagen type II alpha 1 chain) on Chromosome 12 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Kniest dysplasia
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TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGC
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TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACTGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGC
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Task1_train_17456
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This variant affects the gene COL2A1 (collagen type II alpha 1 chain) found on Chromosome 12. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Namaqualand hip dysplasia
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TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGC
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TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACTGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGC
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Task1_train_17457
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This variant lies on Chromosome 12 and affects the gene COL2A1 (collagen type II alpha 1 chain). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Vitreoretinopathy with phalangeal epiphyseal dysplasia
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TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGC
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TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACTGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGC
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Task1_train_17458
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This variant affects the gene COL2A1 (collagen type II alpha 1 chain) found on Chromosome 12. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Spondyloepiphyseal dysplasia, Stanescu type
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TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGC
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TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACTGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGC
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Task1_train_17459
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This gene mutation involves COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Achondrogenesis type II
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TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGC
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TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACTGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGC
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Task1_train_17460
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Here’s a variant in COL2A1 (collagen type II alpha 1 chain) located on Chromosome 12. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Spondyloepiphyseal dysplasia congenita
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TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGC
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TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACTGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGC
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Task1_train_17461
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This sequence change occurs on Chromosome 12, altering COL2A1 (collagen type II alpha 1 chain). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Multiple epiphyseal dysplasia, Beighton type
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TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGC
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TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACTGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGC
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Task1_train_17462
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A variant on Chromosome 12 in gene COL2A1 (collagen type II alpha 1 chain) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Spondyloepiphyseal dysplasia with metatarsal shortening
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TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGC
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TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACTGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGC
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Task1_train_17463
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Here’s a variant in COL2A1 (collagen type II alpha 1 chain) located on Chromosome 12. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Stickler syndrome, type I, nonsyndromic ocular
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TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGC
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TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACTGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGC
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Task1_train_17464
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This mutation is located in gene COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Spondyloperipheral dysplasia
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TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGC
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TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACTGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGC
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Task1_train_17465
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This mutation is located in gene COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Avascular necrosis of femoral head, primary, 1
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TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGC
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TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACTGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGC
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Task1_train_17466
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Assess the clinical impact of this variant on gene COL2A1 (collagen type II alpha 1 chain), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Stickler syndrome type 1
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TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGC
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TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACTGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGC
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Task1_train_17467
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A variant was discovered on Chromosome 12, affecting COL2A1 (collagen type II alpha 1 chain). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Platyspondylic dysplasia, Torrance type
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TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGC
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TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACTGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGC
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Task1_train_17468
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A mutation found in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Spondyloepimetaphyseal dysplasia, Strudwick type
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TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGC
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TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACTGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGC
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Task1_train_17469
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Given this variant in gene COL2A1 (collagen type II alpha 1 chain) on Chromosome 12, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Inborn genetic diseases
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TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGC
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TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACTGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGC
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Task1_train_17470
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This genomic variant is located on Chromosome 12, within the COL2A1 (collagen type II alpha 1 chain) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Spondyloperipheral dysplasia
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TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGC
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TCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACTGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGC
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Task1_train_17471
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This variant lies on Chromosome 12 and affects the gene COL2A1 (collagen type II alpha 1 chain). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; not provided
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AGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGCAGAGTCCCT
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AGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCTAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGCAGAGTCCCT
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Task1_train_17472
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A sequence alteration has been identified in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it disease-inducing or harmless?
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Pathogenic; Stickler syndrome type 1
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CAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGCAGAGTCCCTGGGGAGGGC
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CAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACGAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGCAGAGTCCCTGGGGAGGGC
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Task1_train_17473
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This mutation is located in gene COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Spondyloepimetaphyseal dysplasia, Strudwick type
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CCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGCAGAGTCCCTGGGGAGGGCTGCTGACCTGGAGAGAG
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CCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCAACTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGCAGAGTCCCTGGGGAGGGCTGCTGACCTGGAGAGAG
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Task1_train_17474
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Here is a variant affecting COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; not provided
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CCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGCAGAGTCCCTGGGGAGGGCTGCTGACCTGGAGAGAGGGCAGAGCCTCCTCAGGTTTCTTCTCAGAACATTCCTGCTTCACTGTGGTAATTATTATTTTCAAAAGGTCAGCCCCCCTCACCTTCCGCTGTCCCTCTTCACAATGGGTCTCCTTCACCCGGCTCCGGGACCTCAGACACTGTCTGGTTGCCATGGAAACCCCCAGGAGGGGAAAAGCAACCTGATGCCAGTGACACATGGAGGCTCCTTATTCATTCCCAGGGACGTTCACACTGGAATCCTTCCTGGGCTGCGAGGCCTGTCCCTGAACTGGCTGGCCTCCCACTGGCCTCTAGTAATCCTCCAGAGAACTCCGTTAACATGGTTTGGAAGAGCCAGGCACCCCAAATAAAGCAGAAACCCAGAGGGGAGCAGGGGCTCCCTGCCTGTGCCCTTTTCCCTGCCCAGTTCCCTCCAGTGCCCGTCAGGGCCCCGAGCTTGCTCAGCTGTTGGGTCTCCCCTAGGTTTGCTTCCCTGTGCTGCCACTCCTGGCCTTCTGCCCCTGCCAGGCCTATGGTGTATCCCCGTCTTCTTCTCTGTCCACCTTTCCCCACTCCAAAGTTGTAACTGGATCTCCCACATTTTATCTTCTGTCTTACTTTCCCTCCAGGTGAGACTGCGAGTGTCTGGCTTTTTGCCCTGCCTGGATGGAGGGGCCAGTGGGTGGGGTGGTGGGGAGCTACTTCTCAGAAGGGA
|
CCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGAGCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGCAGAGTCCCTGGGGAGGGCTGCTGACCTGGAGAGAGGGCAGAGCCTCCTCAGGTTTCTTCTCAGAACATTCCTGCTTCACTGTGGTAATTATTATTTTCAAAAGGTCAGCCCCCCTCACCTTCCGCTGTCCCTCTTCACAATGGGTCTCCTTCACCCGGCTCCGGGACCTCAGACACTGTCTGGTTGCCATGGAAACCCCCAGGAGGGGAAAAGCAACCTGATGCCAGTGACACATGGAGGCTCCTTATTCATTCCCAGGGACGTTCACACTGGAATCCTTCCTGGGCTGCGAGGCCTGTCCCTGAACTGGCTGGCCTCCCACTGGCCTCTAGTAATCCTCCAGAGAACTCCGTTAACATGGTTTGGAAGAGCCAGGCACCCCAAATAAAGCAGAAACCCAGAGGGGAGCAGGGGCTCCCTGCCTGTGCCCTTTTCCCTGCCCAGTTCCCTCCAGTGCCCGTCAGGGCCCCGAGCTTGCTCAGCTGTTGGGTCTCCCCTAGGTTTGCTTCCCTGTGCTGCCACTCCTGGCCTTCTGCCCCTGCCAGGCCTATGGTGTATCCCCGTCTTCTTCTCTGTCCACCTTTCCCCACTCCAAAGTTGTAACTGGATCTCCCACATTTTATCTTCTGTCTTACTTTCCCTCCAGGTGAGACTGCGAGTGTCTGGCTTTTTGCCCTGCCTGGATGGAGGGGCCAGTGGGTGGGGTGGTGGGGAGCTACTTCTCAGAAGGGA
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Task1_train_17475
|
This mutation occurs in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Does this change lead to a known medical condition, or is it benign?
|
Pathogenic; not provided
|
CCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGCAGAGTCCCTGGGGAGGGCTGCTGACCTGGAGAGAGGGCAGAGCCTCCTCAGGTTTCTTCTCAGAACATTCCTGCTTCACTGTGGTAATTATTATTTTCAAAAGGTCAGCCCCCCTCACCTTCCGCTGTCCCTCTTCACAATGGGTCTCCTTCACCCGGCTCCGGGACCTCAGACACTGTCTGGTTGCCATGGAAACCCCCAGGAGGGGAAAAGCAACCTGATGCCAGTGACACATGGAGGCTCCTTATTCATTCCCAGGGACGTTCACACTGGAATCCTTCCTGGGCTGCGAGGCCTGTCCCTGAACTGGCTGGCCTCCCACTGGCCTCTAGTAATCCTCCAGAGAACTCCGTTAACATGGTTTGGAAGAGCCAGGCACCCCAAATAAAGCAGAAACCCAGAGGGGAGCAGGGGCTCCCTGCCTGTGCCCTTTTCCCTGCCCAGTTCCCTCCAGTGCCCGTCAGGGCCCCGAGCTTGCTCAGCTGTTGGGTCTCCCCTAGGTTTGCTTCCCTGTGCTGCCACTCCTGGCCTTCTGCCCCTGCCAGGCCTATGGTGTATCCCCGTCTTCTTCTCTGTCCACCTTTCCCCACTCCAAAGTTGTAACTGGATCTCCCACATTTTATCTTCTGTCTTACTTTCCCTCCAGGTGAGACTGCGAGTGTCTGGCTTTTTGCCCTGCCTGGATGGAGGGGCCAGTGGGTGGGGTGGTGGGGAGCTACTTCTCAGAAGGGAG
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CCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACTTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGCAGAGTCCCTGGGGAGGGCTGCTGACCTGGAGAGAGGGCAGAGCCTCCTCAGGTTTCTTCTCAGAACATTCCTGCTTCACTGTGGTAATTATTATTTTCAAAAGGTCAGCCCCCCTCACCTTCCGCTGTCCCTCTTCACAATGGGTCTCCTTCACCCGGCTCCGGGACCTCAGACACTGTCTGGTTGCCATGGAAACCCCCAGGAGGGGAAAAGCAACCTGATGCCAGTGACACATGGAGGCTCCTTATTCATTCCCAGGGACGTTCACACTGGAATCCTTCCTGGGCTGCGAGGCCTGTCCCTGAACTGGCTGGCCTCCCACTGGCCTCTAGTAATCCTCCAGAGAACTCCGTTAACATGGTTTGGAAGAGCCAGGCACCCCAAATAAAGCAGAAACCCAGAGGGGAGCAGGGGCTCCCTGCCTGTGCCCTTTTCCCTGCCCAGTTCCCTCCAGTGCCCGTCAGGGCCCCGAGCTTGCTCAGCTGTTGGGTCTCCCCTAGGTTTGCTTCCCTGTGCTGCCACTCCTGGCCTTCTGCCCCTGCCAGGCCTATGGTGTATCCCCGTCTTCTTCTCTGTCCACCTTTCCCCACTCCAAAGTTGTAACTGGATCTCCCACATTTTATCTTCTGTCTTACTTTCCCTCCAGGTGAGACTGCGAGTGTCTGGCTTTTTGCCCTGCCTGGATGGAGGGGCCAGTGGGTGGGGTGGTGGGGAGCTACTTCTCAGAAGGGAG
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Task1_train_17476
|
Mutation context: Chromosome 12, Gene COL2A1 (collagen type II alpha 1 chain). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Spondyloepimetaphyseal dysplasia, Strudwick type
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CCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGCAGAGTCCCTGGGGAGGGCTGCTGACCTGGAGAGAGGGCAGAGCCTCCTCAGGTTTCTTCTCAGAACATTCCTGCTTCACTGTGGTAATTATTATTTTCAAAAGGTCAGCCCCCCTCACCTTCCGCTGTCCCTCTTCACAATGGGTCTCCTTCACCCGGCTCCGGGACCTCAGACACTGTCTGGTTGCCATGGAAACCCCCAGGAGGGGAAAAGCAACCTGATGCCAGTGACACATGGAGGCTCCTTATTCATTCCCAGGGACGTTCACACTGGAATCCTTCCTGGGCTGCGAGGCCTGTCCCTGAACTGGCTGGCCTCCCACTGGCCTCTAGTAATCCTCCAGAGAACTCCGTTAACATGGTTTGGAAGAGCCAGGCACCCCAAATAAAGCAGAAACCCAGAGGGGAGCAGGGGCTCCCTGCCTGTGCCCTTTTCCCTGCCCAGTTCCCTCCAGTGCCCGTCAGGGCCCCGAGCTTGCTCAGCTGTTGGGTCTCCCCTAGGTTTGCTTCCCTGTGCTGCCACTCCTGGCCTTCTGCCCCTGCCAGGCCTATGGTGTATCCCCGTCTTCTTCTCTGTCCACCTTTCCCCACTCCAAAGTTGTAACTGGATCTCCCACATTTTATCTTCTGTCTTACTTTCCCTCCAGGTGAGACTGCGAGTGTCTGGCTTTTTGCCCTGCCTGGATGGAGGGGCCAGTGGGTGGGGTGGTGGGGAGCTACTTCTCAGAAGGGAGCAGGTGGTT
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CCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCGCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGCAGAGTCCCTGGGGAGGGCTGCTGACCTGGAGAGAGGGCAGAGCCTCCTCAGGTTTCTTCTCAGAACATTCCTGCTTCACTGTGGTAATTATTATTTTCAAAAGGTCAGCCCCCCTCACCTTCCGCTGTCCCTCTTCACAATGGGTCTCCTTCACCCGGCTCCGGGACCTCAGACACTGTCTGGTTGCCATGGAAACCCCCAGGAGGGGAAAAGCAACCTGATGCCAGTGACACATGGAGGCTCCTTATTCATTCCCAGGGACGTTCACACTGGAATCCTTCCTGGGCTGCGAGGCCTGTCCCTGAACTGGCTGGCCTCCCACTGGCCTCTAGTAATCCTCCAGAGAACTCCGTTAACATGGTTTGGAAGAGCCAGGCACCCCAAATAAAGCAGAAACCCAGAGGGGAGCAGGGGCTCCCTGCCTGTGCCCTTTTCCCTGCCCAGTTCCCTCCAGTGCCCGTCAGGGCCCCGAGCTTGCTCAGCTGTTGGGTCTCCCCTAGGTTTGCTTCCCTGTGCTGCCACTCCTGGCCTTCTGCCCCTGCCAGGCCTATGGTGTATCCCCGTCTTCTTCTCTGTCCACCTTTCCCCACTCCAAAGTTGTAACTGGATCTCCCACATTTTATCTTCTGTCTTACTTTCCCTCCAGGTGAGACTGCGAGTGTCTGGCTTTTTGCCCTGCCTGGATGGAGGGGCCAGTGGGTGGGGTGGTGGGGAGCTACTTCTCAGAAGGGAGCAGGTGGTT
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Task1_train_17477
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A genetic alteration is present in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; not provided
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CCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGCAGAGTCCCTGGGGAGGGCTGCTGACCTGGAGAGAGGGCAGAGCCTCCTCAGGTTTCTTCTCAGAACATTCCTGCTTCACTGTGGTAATTATTATTTTCAAAAGGTCAGCCCCCCTCACCTTCCGCTGTCCCTCTTCACAATGGGTCTCCTTCACCCGGCTCCGGGACCTCAGACACTGTCTGGTTGCCATGGAAACCCCCAGGAGGGGAAAAGCAACCTGATGCCAGTGACACATGGAGGCTCCTTATTCATTCCCAGGGACGTTCACACTGGAATCCTTCCTGGGCTGCGAGGCCTGTCCCTGAACTGGCTGGCCTCCCACTGGCCTCTAGTAATCCTCCAGAGAACTCCGTTAACATGGTTTGGAAGAGCCAGGCACCCCAAATAAAGCAGAAACCCAGAGGGGAGCAGGGGCTCCCTGCCTGTGCCCTTTTCCCTGCCCAGTTCCCTCCAGTGCCCGTCAGGGCCCCGAGCTTGCTCAGCTGTTGGGTCTCCCCTAGGTTTGCTTCCCTGTGCTGCCACTCCTGGCCTTCTGCCCCTGCCAGGCCTATGGTGTATCCCCGTCTTCTTCTCTGTCCACCTTTCCCCACTCCAAAGTTGTAACTGGATCTCCCACATTTTATCTTCTGTCTTACTTTCCCTCCAGGTGAGACTGCGAGTGTCTGGCTTTTTGCCCTGCCTGGATGGAGGGGCCAGTGGGTGGGGTGGTGGGGAGCTACTTCTCAGAAGGGAGCAGGTGGTT
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CCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCTCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGCAGAGTCCCTGGGGAGGGCTGCTGACCTGGAGAGAGGGCAGAGCCTCCTCAGGTTTCTTCTCAGAACATTCCTGCTTCACTGTGGTAATTATTATTTTCAAAAGGTCAGCCCCCCTCACCTTCCGCTGTCCCTCTTCACAATGGGTCTCCTTCACCCGGCTCCGGGACCTCAGACACTGTCTGGTTGCCATGGAAACCCCCAGGAGGGGAAAAGCAACCTGATGCCAGTGACACATGGAGGCTCCTTATTCATTCCCAGGGACGTTCACACTGGAATCCTTCCTGGGCTGCGAGGCCTGTCCCTGAACTGGCTGGCCTCCCACTGGCCTCTAGTAATCCTCCAGAGAACTCCGTTAACATGGTTTGGAAGAGCCAGGCACCCCAAATAAAGCAGAAACCCAGAGGGGAGCAGGGGCTCCCTGCCTGTGCCCTTTTCCCTGCCCAGTTCCCTCCAGTGCCCGTCAGGGCCCCGAGCTTGCTCAGCTGTTGGGTCTCCCCTAGGTTTGCTTCCCTGTGCTGCCACTCCTGGCCTTCTGCCCCTGCCAGGCCTATGGTGTATCCCCGTCTTCTTCTCTGTCCACCTTTCCCCACTCCAAAGTTGTAACTGGATCTCCCACATTTTATCTTCTGTCTTACTTTCCCTCCAGGTGAGACTGCGAGTGTCTGGCTTTTTGCCCTGCCTGGATGGAGGGGCCAGTGGGTGGGGTGGTGGGGAGCTACTTCTCAGAAGGGAGCAGGTGGTT
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Task1_train_17478
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Here’s a variant in COL2A1 (collagen type II alpha 1 chain) located on Chromosome 12. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; not provided
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CCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGCAGAGTCCCTGGGGAGGGCTGCTGACCTGGAGAGAGGGCAGAGCCTCCTCAGGTTTCTTCTCAGAACATTCCTGCTTCACTGTGGTAATTATTATTTTCAAAAGGTCAGCCCCCCTCACCTTCCGCTGTCCCTCTTCACAATGGGTCTCCTTCACCCGGCTCCGGGACCTCAGACACTGTCTGGTTGCCATGGAAACCCCCAGGAGGGGAAAAGCAACCTGATGCCAGTGACACATGGAGGCTCCTTATTCATTCCCAGGGACGTTCACACTGGAATCCTTCCTGGGCTGCGAGGCCTGTCCCTGAACTGGCTGGCCTCCCACTGGCCTCTAGTAATCCTCCAGAGAACTCCGTTAACATGGTTTGGAAGAGCCAGGCACCCCAAATAAAGCAGAAACCCAGAGGGGAGCAGGGGCTCCCTGCCTGTGCCCTTTTCCCTGCCCAGTTCCCTCCAGTGCCCGTCAGGGCCCCGAGCTTGCTCAGCTGTTGGGTCTCCCCTAGGTTTGCTTCCCTGTGCTGCCACTCCTGGCCTTCTGCCCCTGCCAGGCCTATGGTGTATCCCCGTCTTCTTCTCTGTCCACCTTTCCCCACTCCAAAGTTGTAACTGGATCTCCCACATTTTATCTTCTGTCTTACTTTCCCTCCAGGTGAGACTGCGAGTGTCTGGCTTTTTGCCCTGCCTGGATGGAGGGGCCAGTGGGTGGGGTGGTGGGGAGCTACTTCTCAGAAGGGAGCAGGTGGTTGTTGAGGGAGCAATGAGC
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CCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACTTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGCAGAGTCCCTGGGGAGGGCTGCTGACCTGGAGAGAGGGCAGAGCCTCCTCAGGTTTCTTCTCAGAACATTCCTGCTTCACTGTGGTAATTATTATTTTCAAAAGGTCAGCCCCCCTCACCTTCCGCTGTCCCTCTTCACAATGGGTCTCCTTCACCCGGCTCCGGGACCTCAGACACTGTCTGGTTGCCATGGAAACCCCCAGGAGGGGAAAAGCAACCTGATGCCAGTGACACATGGAGGCTCCTTATTCATTCCCAGGGACGTTCACACTGGAATCCTTCCTGGGCTGCGAGGCCTGTCCCTGAACTGGCTGGCCTCCCACTGGCCTCTAGTAATCCTCCAGAGAACTCCGTTAACATGGTTTGGAAGAGCCAGGCACCCCAAATAAAGCAGAAACCCAGAGGGGAGCAGGGGCTCCCTGCCTGTGCCCTTTTCCCTGCCCAGTTCCCTCCAGTGCCCGTCAGGGCCCCGAGCTTGCTCAGCTGTTGGGTCTCCCCTAGGTTTGCTTCCCTGTGCTGCCACTCCTGGCCTTCTGCCCCTGCCAGGCCTATGGTGTATCCCCGTCTTCTTCTCTGTCCACCTTTCCCCACTCCAAAGTTGTAACTGGATCTCCCACATTTTATCTTCTGTCTTACTTTCCCTCCAGGTGAGACTGCGAGTGTCTGGCTTTTTGCCCTGCCTGGATGGAGGGGCCAGTGGGTGGGGTGGTGGGGAGCTACTTCTCAGAAGGGAGCAGGTGGTTGTTGAGGGAGCAATGAGC
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Task1_train_17479
|
This variant lies on Chromosome 12 and affects the gene COL2A1 (collagen type II alpha 1 chain). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; not provided
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ATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGCAGAGTCCCTGGGGAGGGCTGCTGACCTGGAGAGAGGGCAGAGCCTCCTCAGGTTTCTTCTCAGAACATTCCTGCTTCACTGTGGTAATTATTATTTTCAAAAGGTCAGCCCCCCTCACCTTCCGCTGTCCCTCTTCACAATGGGTCTCCTTCACCCGGCTCCGGGACCTCAGACACTGTCTGGTTGCCATGGAAACCCCCAGGAGGGGAAAAGCAACCTGATGCCAGTGACACATGGAGGCTCCTTATTCATTCCCAGGGACGTTCACACTGGAATCCTTCCTGGGCTGCGAGGCCTGTCCCTGAACTGGCTGGCCTCCCACTGGCCTCTAGTAATCCTCCAGAGAACTCCGTTAACATGGTTTGGAAGAGCCAGGCACCCCAAATAAAGCAGAAACCCAGAGGGGAGCAGGGGCTCCCTGCCTGTGCCCTTTTCCCTGCCCAGTTCCCTCCAGTGCCCGTCAGGGCCCCGAGCTTGCTCAGCTGTTGGGTCTCCCCTAGGTTTGCTTCCCTGTGCTGCCACTCCTGGCCTTCTGCCCCTGCCAGGCCTATGGTGTATCCCCGTCTTCTTCTCTGTCCACCTTTCCCCACTCCAAAGTTGTAACTGGATCTCCCACATTTTATCTTCTGTCTTACTTTCCCTCCAGGTGAGACTGCGAGTGTCTGGCTTTTTGCCCTGCCTGGATGGAGGGGCCAGTGGGTGGGGTGGTGGGGAGCTACTTCTCAGAAGGGAGCAGGTGGTTGTTGAGGGAGCAATGAGCAAGGGTTACGGGGAAAGGACAGCTTCTCGGCACCCAGAAGTTCCTGACTGGACAACAGGGCACGTACCTTGGCTCCAGGAGCACCAGGGAAGCCAGGACCACCAGCAGGACCGACAGGACCCTGGAGAGAGTAGGCGGATGAGAAGAGAGGTGAATGCCAGTT
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ATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATTCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGCAGAGTCCCTGGGGAGGGCTGCTGACCTGGAGAGAGGGCAGAGCCTCCTCAGGTTTCTTCTCAGAACATTCCTGCTTCACTGTGGTAATTATTATTTTCAAAAGGTCAGCCCCCCTCACCTTCCGCTGTCCCTCTTCACAATGGGTCTCCTTCACCCGGCTCCGGGACCTCAGACACTGTCTGGTTGCCATGGAAACCCCCAGGAGGGGAAAAGCAACCTGATGCCAGTGACACATGGAGGCTCCTTATTCATTCCCAGGGACGTTCACACTGGAATCCTTCCTGGGCTGCGAGGCCTGTCCCTGAACTGGCTGGCCTCCCACTGGCCTCTAGTAATCCTCCAGAGAACTCCGTTAACATGGTTTGGAAGAGCCAGGCACCCCAAATAAAGCAGAAACCCAGAGGGGAGCAGGGGCTCCCTGCCTGTGCCCTTTTCCCTGCCCAGTTCCCTCCAGTGCCCGTCAGGGCCCCGAGCTTGCTCAGCTGTTGGGTCTCCCCTAGGTTTGCTTCCCTGTGCTGCCACTCCTGGCCTTCTGCCCCTGCCAGGCCTATGGTGTATCCCCGTCTTCTTCTCTGTCCACCTTTCCCCACTCCAAAGTTGTAACTGGATCTCCCACATTTTATCTTCTGTCTTACTTTCCCTCCAGGTGAGACTGCGAGTGTCTGGCTTTTTGCCCTGCCTGGATGGAGGGGCCAGTGGGTGGGGTGGTGGGGAGCTACTTCTCAGAAGGGAGCAGGTGGTTGTTGAGGGAGCAATGAGCAAGGGTTACGGGGAAAGGACAGCTTCTCGGCACCCAGAAGTTCCTGACTGGACAACAGGGCACGTACCTTGGCTCCAGGAGCACCAGGGAAGCCAGGACCACCAGCAGGACCGACAGGACCCTGGAGAGAGTAGGCGGATGAGAAGAGAGGTGAATGCCAGTT
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Task1_train_17480
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Assess the clinical impact of this variant on gene COL2A1 (collagen type II alpha 1 chain), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Kniest dysplasia
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ATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGCAGAGTCCCTGGGGAGGGCTGCTGACCTGGAGAGAGGGCAGAGCCTCCTCAGGTTTCTTCTCAGAACATTCCTGCTTCACTGTGGTAATTATTATTTTCAAAAGGTCAGCCCCCCTCACCTTCCGCTGTCCCTCTTCACAATGGGTCTCCTTCACCCGGCTCCGGGACCTCAGACACTGTCTGGTTGCCATGGAAACCCCCAGGAGGGGAAAAGCAACCTGATGCCAGTGACACATGGAGGCTCCTTATTCATTCCCAGGGACGTTCACACTGGAATCCTTCCTGGGCTGCGAGGCCTGTCCCTGAACTGGCTGGCCTCCCACTGGCCTCTAGTAATCCTCCAGAGAACTCCGTTAACATGGTTTGGAAGAGCCAGGCACCCCAAATAAAGCAGAAACCCAGAGGGGAGCAGGGGCTCCCTGCCTGTGCCCTTTTCCCTGCCCAGTTCCCTCCAGTGCCCGTCAGGGCCCCGAGCTTGCTCAGCTGTTGGGTCTCCCCTAGGTTTGCTTCCCTGTGCTGCCACTCCTGGCCTTCTGCCCCTGCCAGGCCTATGGTGTATCCCCGTCTTCTTCTCTGTCCACCTTTCCCCACTCCAAAGTTGTAACTGGATCTCCCACATTTTATCTTCTGTCTTACTTTCCCTCCAGGTGAGACTGCGAGTGTCTGGCTTTTTGCCCTGCCTGGATGGAGGGGCCAGTGGGTGGGGTGGTGGGGAGCTACTTCTCAGAAGGGAGCAGGTGGTTGTTGAGGGAGCAATGAGCAAGGGTTACGGGGAAAGGACAGCTTCTCGGCACCCAGAAGTTCCTGACTGGACAACAGGGCACGTACCTTGGCTCCAGGAGCACCAGGGAAGCCAGGACCACCAGCAGGACCGACAGGACCCTGGAGAGAGTAGGCGGATGAGAAGAGAGGTGAATGCCAGTTCTGGCCTCC
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ATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTACAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGCAGAGTCCCTGGGGAGGGCTGCTGACCTGGAGAGAGGGCAGAGCCTCCTCAGGTTTCTTCTCAGAACATTCCTGCTTCACTGTGGTAATTATTATTTTCAAAAGGTCAGCCCCCCTCACCTTCCGCTGTCCCTCTTCACAATGGGTCTCCTTCACCCGGCTCCGGGACCTCAGACACTGTCTGGTTGCCATGGAAACCCCCAGGAGGGGAAAAGCAACCTGATGCCAGTGACACATGGAGGCTCCTTATTCATTCCCAGGGACGTTCACACTGGAATCCTTCCTGGGCTGCGAGGCCTGTCCCTGAACTGGCTGGCCTCCCACTGGCCTCTAGTAATCCTCCAGAGAACTCCGTTAACATGGTTTGGAAGAGCCAGGCACCCCAAATAAAGCAGAAACCCAGAGGGGAGCAGGGGCTCCCTGCCTGTGCCCTTTTCCCTGCCCAGTTCCCTCCAGTGCCCGTCAGGGCCCCGAGCTTGCTCAGCTGTTGGGTCTCCCCTAGGTTTGCTTCCCTGTGCTGCCACTCCTGGCCTTCTGCCCCTGCCAGGCCTATGGTGTATCCCCGTCTTCTTCTCTGTCCACCTTTCCCCACTCCAAAGTTGTAACTGGATCTCCCACATTTTATCTTCTGTCTTACTTTCCCTCCAGGTGAGACTGCGAGTGTCTGGCTTTTTGCCCTGCCTGGATGGAGGGGCCAGTGGGTGGGGTGGTGGGGAGCTACTTCTCAGAAGGGAGCAGGTGGTTGTTGAGGGAGCAATGAGCAAGGGTTACGGGGAAAGGACAGCTTCTCGGCACCCAGAAGTTCCTGACTGGACAACAGGGCACGTACCTTGGCTCCAGGAGCACCAGGGAAGCCAGGACCACCAGCAGGACCGACAGGACCCTGGAGAGAGTAGGCGGATGAGAAGAGAGGTGAATGCCAGTTCTGGCCTCC
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Task1_train_17481
|
This sequence variant lies in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; not provided
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TCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGCAGAGTCCCTGGGGAGGGCTGCTGACCTGGAGAGAGGGCAGAGCCTCCTCAGGTTTCTTCTCAGAACATTCCTGCTTCACTGTGGTAATTATTATTTTCAAAAGGTCAGCCCCCCTCACCTTCCGCTGTCCCTCTTCACAATGGGTCTCCTTCACCCGGCTCCGGGACCTCAGACACTGTCTGGTTGCCATGGAAACCCCCAGGAGGGGAAAAGCAACCTGATGCCAGTGACACATGGAGGCTCCTTATTCATTCCCAGGGACGTTCACACTGGAATCCTTCCTGGGCTGCGAGGCCTGTCCCTGAACTGGCTGGCCTCCCACTGGCCTCTAGTAATCCTCCAGAGAACTCCGTTAACATGGTTTGGAAGAGCCAGGCACCCCAAATAAAGCAGAAACCCAGAGGGGAGCAGGGGCTCCCTGCCTGTGCCCTTTTCCCTGCCCAGTTCCCTCCAGTGCCCGTCAGGGCCCCGAGCTTGCTCAGCTGTTGGGTCTCCCCTAGGTTTGCTTCCCTGTGCTGCCACTCCTGGCCTTCTGCCCCTGCCAGGCCTATGGTGTATCCCCGTCTTCTTCTCTGTCCACCTTTCCCCACTCCAAAGTTGTAACTGGATCTCCCACATTTTATCTTCTGTCTTACTTTCCCTCCAGGTGAGACTGCGAGTGTCTGGCTTTTTGCCCTGCCTGGATGGAGGGGCCAGTGGGTGGGGTGGTGGGGAGCTACTTCTCAGAAGGGAGCAGGTGGTTGTTGAGGGAGCAATGAGCAAGGGTTACGGGGAAAGGACAGCTTCTCGGCACCCAGAAGTTCCTGACTGGACAACAGGGCACGTACCTTGGCTCCAGGAGCACCAGGGAAGCCAGGACCACCAGCAGGACCGACAGGACCCTGGAGAGAGTAGGCGGATGAGAAGAGAGGTGAATGCCAGTTCTGGCCTCCAAAGCGAGC
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TCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTACATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGCAGAGTCCCTGGGGAGGGCTGCTGACCTGGAGAGAGGGCAGAGCCTCCTCAGGTTTCTTCTCAGAACATTCCTGCTTCACTGTGGTAATTATTATTTTCAAAAGGTCAGCCCCCCTCACCTTCCGCTGTCCCTCTTCACAATGGGTCTCCTTCACCCGGCTCCGGGACCTCAGACACTGTCTGGTTGCCATGGAAACCCCCAGGAGGGGAAAAGCAACCTGATGCCAGTGACACATGGAGGCTCCTTATTCATTCCCAGGGACGTTCACACTGGAATCCTTCCTGGGCTGCGAGGCCTGTCCCTGAACTGGCTGGCCTCCCACTGGCCTCTAGTAATCCTCCAGAGAACTCCGTTAACATGGTTTGGAAGAGCCAGGCACCCCAAATAAAGCAGAAACCCAGAGGGGAGCAGGGGCTCCCTGCCTGTGCCCTTTTCCCTGCCCAGTTCCCTCCAGTGCCCGTCAGGGCCCCGAGCTTGCTCAGCTGTTGGGTCTCCCCTAGGTTTGCTTCCCTGTGCTGCCACTCCTGGCCTTCTGCCCCTGCCAGGCCTATGGTGTATCCCCGTCTTCTTCTCTGTCCACCTTTCCCCACTCCAAAGTTGTAACTGGATCTCCCACATTTTATCTTCTGTCTTACTTTCCCTCCAGGTGAGACTGCGAGTGTCTGGCTTTTTGCCCTGCCTGGATGGAGGGGCCAGTGGGTGGGGTGGTGGGGAGCTACTTCTCAGAAGGGAGCAGGTGGTTGTTGAGGGAGCAATGAGCAAGGGTTACGGGGAAAGGACAGCTTCTCGGCACCCAGAAGTTCCTGACTGGACAACAGGGCACGTACCTTGGCTCCAGGAGCACCAGGGAAGCCAGGACCACCAGCAGGACCGACAGGACCCTGGAGAGAGTAGGCGGATGAGAAGAGAGGTGAATGCCAGTTCTGGCCTCCAAAGCGAGC
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Task1_train_17482
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Assess the clinical impact of this variant on gene COL2A1 (collagen type II alpha 1 chain), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; not provided
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AGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGCAGAGTCCCTGGGGAGGGCTGCTGACCTGGAGAGAGGGCAGAGCCTCCTCAGGTTTCTTCTCAGAACATTCCTGCTTCACTGTGGTAATTATTATTTTCAAAAGGTCAGCCCCCCTCACCTTCCGCTGTCCCTCTTCACAATGGGTCTCCTTCACCCGGCTCCGGGACCTCAGACACTGTCTGGTTGCCATGGAAACCCCCAGGAGGGGAAAAGCAACCTGATGCCAGTGACACATGGAGGCTCCTTATTCATTCCCAGGGACGTTCACACTGGAATCCTTCCTGGGCTGCGAGGCCTGTCCCTGAACTGGCTGGCCTCCCACTGGCCTCTAGTAATCCTCCAGAGAACTCCGTTAACATGGTTTGGAAGAGCCAGGCACCCCAAATAAAGCAGAAACCCAGAGGGGAGCAGGGGCTCCCTGCCTGTGCCCTTTTCCCTGCCCAGTTCCCTCCAGTGCCCGTCAGGGCCCCGAGCTTGCTCAGCTGTTGGGTCTCCCCTAGGTTTGCTTCCCTGTGCTGCCACTCCTGGCCTTCTGCCCCTGCCAGGCCTATGGTGTATCCCCGTCTTCTTCTCTGTCCACCTTTCCCCACTCCAAAGTTGTAACTGGATCTCCCACATTTTATCTTCTGTCTTACTTTCCCTCCAGGTGAGACTGCGAGTGTCTGGCTTTTTGCCCTGCCTGGATGGAGGGGCCAGTGGGTGGGGTGGTGGGGAGCTACTTCTCAGAAGGGAGCAGGTGGTTGTTGAGGGAGCAATGAGCAAGGGTTACGGGGAAAGGACAGCTTCTCGGCACCCAGAAGTTCCTGACTGGACAACAGGGCACGTACCTTGGCTCCAGGAGCACCAGGGAAGCCAGGACCACCAGCAGGACCGACAGGACCCTGGAGAGAGTAGGCGGATGAGAAGAGAGGTGAATGCCAGTTCTGGCCTCCAAAGCGAGCCACCCCGACACCTCACACTCCTTCCCTCCTCTGTACTGATTTCACTCCATATCCATTGTGGCTAAAAGGCCTTGGATGAAAATTGTCCCCATTGCCAGCGTCCCCAGGAAACTTTGCCTGGCTTCAGAAGGCAAAGCAAGTTTCTGACTACATCTGTGGTGAGAAGCAGAAACTCCTTTGACCTCCCTCCTCTAAAAAGACTGCTGAAAGGATGGCTGAGGAAAATGAGCCCATGCTTCAAAGCTTGTTATCGATATGCTCAATTGATATTTACAAACTTCTTCTCTTTCCTCCCCCTTTCCAGTAGACATCAGAGTGCTGCTG
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AGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCATCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGCAGAGTCCCTGGGGAGGGCTGCTGACCTGGAGAGAGGGCAGAGCCTCCTCAGGTTTCTTCTCAGAACATTCCTGCTTCACTGTGGTAATTATTATTTTCAAAAGGTCAGCCCCCCTCACCTTCCGCTGTCCCTCTTCACAATGGGTCTCCTTCACCCGGCTCCGGGACCTCAGACACTGTCTGGTTGCCATGGAAACCCCCAGGAGGGGAAAAGCAACCTGATGCCAGTGACACATGGAGGCTCCTTATTCATTCCCAGGGACGTTCACACTGGAATCCTTCCTGGGCTGCGAGGCCTGTCCCTGAACTGGCTGGCCTCCCACTGGCCTCTAGTAATCCTCCAGAGAACTCCGTTAACATGGTTTGGAAGAGCCAGGCACCCCAAATAAAGCAGAAACCCAGAGGGGAGCAGGGGCTCCCTGCCTGTGCCCTTTTCCCTGCCCAGTTCCCTCCAGTGCCCGTCAGGGCCCCGAGCTTGCTCAGCTGTTGGGTCTCCCCTAGGTTTGCTTCCCTGTGCTGCCACTCCTGGCCTTCTGCCCCTGCCAGGCCTATGGTGTATCCCCGTCTTCTTCTCTGTCCACCTTTCCCCACTCCAAAGTTGTAACTGGATCTCCCACATTTTATCTTCTGTCTTACTTTCCCTCCAGGTGAGACTGCGAGTGTCTGGCTTTTTGCCCTGCCTGGATGGAGGGGCCAGTGGGTGGGGTGGTGGGGAGCTACTTCTCAGAAGGGAGCAGGTGGTTGTTGAGGGAGCAATGAGCAAGGGTTACGGGGAAAGGACAGCTTCTCGGCACCCAGAAGTTCCTGACTGGACAACAGGGCACGTACCTTGGCTCCAGGAGCACCAGGGAAGCCAGGACCACCAGCAGGACCGACAGGACCCTGGAGAGAGTAGGCGGATGAGAAGAGAGGTGAATGCCAGTTCTGGCCTCCAAAGCGAGCCACCCCGACACCTCACACTCCTTCCCTCCTCTGTACTGATTTCACTCCATATCCATTGTGGCTAAAAGGCCTTGGATGAAAATTGTCCCCATTGCCAGCGTCCCCAGGAAACTTTGCCTGGCTTCAGAAGGCAAAGCAAGTTTCTGACTACATCTGTGGTGAGAAGCAGAAACTCCTTTGACCTCCCTCCTCTAAAAAGACTGCTGAAAGGATGGCTGAGGAAAATGAGCCCATGCTTCAAAGCTTGTTATCGATATGCTCAATTGATATTTACAAACTTCTTCTCTTTCCTCCCCCTTTCCAGTAGACATCAGAGTGCTGCTG
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Task1_train_17483
|
A variant affecting Chromosome 12, within the gene COL2A1 (collagen type II alpha 1 chain), has been observed. Determine if it's benign or associated with disease.
|
Pathogenic; Spondyloepiphyseal dysplasia congenita
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TTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGCAGAGTCCCTGGGGAGGGCTGCTGACCTGGAGAGAGGGCAGAGCCTCCTCAGGTTTCTTCTCAGAACATTCCTGCTTCACTGTGGTAATTATTATTTTCAAAAGGTCAGCCCCCCTCACCTTCCGCTGTCCCTCTTCACAATGGGTCTCCTTCACCCGGCTCCGGGACCTCAGACACTGTCTGGTTGCCATGGAAACCCCCAGGAGGGGAAAAGCAACCTGATGCCAGTGACACATGGAGGCTCCTTATTCATTCCCAGGGACGTTCACACTGGAATCCTTCCTGGGCTGCGAGGCCTGTCCCTGAACTGGCTGGCCTCCCACTGGCCTCTAGTAATCCTCCAGAGAACTCCGTTAACATGGTTTGGAAGAGCCAGGCACCCCAAATAAAGCAGAAACCCAGAGGGGAGCAGGGGCTCCCTGCCTGTGCCCTTTTCCCTGCCCAGTTCCCTCCAGTGCCCGTCAGGGCCCCGAGCTTGCTCAGCTGTTGGGTCTCCCCTAGGTTTGCTTCCCTGTGCTGCCACTCCTGGCCTTCTGCCCCTGCCAGGCCTATGGTGTATCCCCGTCTTCTTCTCTGTCCACCTTTCCCCACTCCAAAGTTGTAACTGGATCTCCCACATTTTATCTTCTGTCTTACTTTCCCTCCAGGTGAGACTGCGAGTGTCTGGCTTTTTGCCCTGCCTGGATGGAGGGGCCAGTGGGTGGGGTGGTGGGGAGCTACTTCTCAGAAGGGAGCAGGTGGTTGTTGAGGGAGCAATGAGCAAGGGTTACGGGGAAAGGACAGCTTCTCGGCACCCAGAAGTTCCTGACTGGACAACAGGGCACGTACCTTGGCTCCAGGAGCACCAGGGAAGCCAGGACCACCAGCAGGACCGACAGGACCCTGGAGAGAGTAGGCGGATGAGAAGAGAGGTGAATGCCAGTTCTGGCCTCCAAAGCGAGCCACCCCGACACCTCACACTCCTTCCCTCCTCTGTACTGATTTCACTCCATATCCATTGTGGCTAAAAGGCCTTGGATGAAAATTGTCCCCATTGCCAGCGTCCCCAGGAAACTTTGCCTGGCTTCAGAAGGCAAAGCAAGTTTCTGACTACATCTGTGGTGAGAAGCAGAAACTCCTTTGACCTCCCTCCTCTAAAAAGACTGCTGAAAGGATGGCTGAGGAAAATGAGCCCATGCTTCAAAGCTTGTTATCGATATGCTCAATTGATATTTACAAACTTCTTCTCTTTCCTCCCCCTTTCCAGTAGACATCAGAGTGCTGCTGTGGTTGCACCCAATACACC
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TTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCTAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGCAGAGTCCCTGGGGAGGGCTGCTGACCTGGAGAGAGGGCAGAGCCTCCTCAGGTTTCTTCTCAGAACATTCCTGCTTCACTGTGGTAATTATTATTTTCAAAAGGTCAGCCCCCCTCACCTTCCGCTGTCCCTCTTCACAATGGGTCTCCTTCACCCGGCTCCGGGACCTCAGACACTGTCTGGTTGCCATGGAAACCCCCAGGAGGGGAAAAGCAACCTGATGCCAGTGACACATGGAGGCTCCTTATTCATTCCCAGGGACGTTCACACTGGAATCCTTCCTGGGCTGCGAGGCCTGTCCCTGAACTGGCTGGCCTCCCACTGGCCTCTAGTAATCCTCCAGAGAACTCCGTTAACATGGTTTGGAAGAGCCAGGCACCCCAAATAAAGCAGAAACCCAGAGGGGAGCAGGGGCTCCCTGCCTGTGCCCTTTTCCCTGCCCAGTTCCCTCCAGTGCCCGTCAGGGCCCCGAGCTTGCTCAGCTGTTGGGTCTCCCCTAGGTTTGCTTCCCTGTGCTGCCACTCCTGGCCTTCTGCCCCTGCCAGGCCTATGGTGTATCCCCGTCTTCTTCTCTGTCCACCTTTCCCCACTCCAAAGTTGTAACTGGATCTCCCACATTTTATCTTCTGTCTTACTTTCCCTCCAGGTGAGACTGCGAGTGTCTGGCTTTTTGCCCTGCCTGGATGGAGGGGCCAGTGGGTGGGGTGGTGGGGAGCTACTTCTCAGAAGGGAGCAGGTGGTTGTTGAGGGAGCAATGAGCAAGGGTTACGGGGAAAGGACAGCTTCTCGGCACCCAGAAGTTCCTGACTGGACAACAGGGCACGTACCTTGGCTCCAGGAGCACCAGGGAAGCCAGGACCACCAGCAGGACCGACAGGACCCTGGAGAGAGTAGGCGGATGAGAAGAGAGGTGAATGCCAGTTCTGGCCTCCAAAGCGAGCCACCCCGACACCTCACACTCCTTCCCTCCTCTGTACTGATTTCACTCCATATCCATTGTGGCTAAAAGGCCTTGGATGAAAATTGTCCCCATTGCCAGCGTCCCCAGGAAACTTTGCCTGGCTTCAGAAGGCAAAGCAAGTTTCTGACTACATCTGTGGTGAGAAGCAGAAACTCCTTTGACCTCCCTCCTCTAAAAAGACTGCTGAAAGGATGGCTGAGGAAAATGAGCCCATGCTTCAAAGCTTGTTATCGATATGCTCAATTGATATTTACAAACTTCTTCTCTTTCCTCCCCCTTTCCAGTAGACATCAGAGTGCTGCTGTGGTTGCACCCAATACACC
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Task1_train_17484
|
A mutation in COL2A1 (collagen type II alpha 1 chain), located on Chromosome 12, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
|
Pathogenic; Spondyloepiphyseal dysplasia congenita
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GAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGCAGAGTCCCTGGGGAGGGCTGCTGACCTGGAGAGAGGGCAGAGCCTCCTCAGGTTTCTTCTCAGAACATTCCTGCTTCACTGTGGTAATTATTATTTTCAAAAGGTCAGCCCCCCTCACCTTCCGCTGTCCCTCTTCACAATGGGTCTCCTTCACCCGGCTCCGGGACCTCAGACACTGTCTGGTTGCCATGGAAACCCCCAGGAGGGGAAAAGCAACCTGATGCCAGTGACACATGGAGGCTCCTTATTCATTCCCAGGGACGTTCACACTGGAATCCTTCCTGGGCTGCGAGGCCTGTCCCTGAACTGGCTGGCCTCCCACTGGCCTCTAGTAATCCTCCAGAGAACTCCGTTAACATGGTTTGGAAGAGCCAGGCACCCCAAATAAAGCAGAAACCCAGAGGGGAGCAGGGGCTCCCTGCCTGTGCCCTTTTCCCTGCCCAGTTCCCTCCAGTGCCCGTCAGGGCCCCGAGCTTGCTCAGCTGTTGGGTCTCCCCTAGGTTTGCTTCCCTGTGCTGCCACTCCTGGCCTTCTGCCCCTGCCAGGCCTATGGTGTATCCCCGTCTTCTTCTCTGTCCACCTTTCCCCACTCCAAAGTTGTAACTGGATCTCCCACATTTTATCTTCTGTCTTACTTTCCCTCCAGGTGAGACTGCGAGTGTCTGGCTTTTTGCCCTGCCTGGATGGAGGGGCCAGTGGGTGGGGTGGTGGGGAGCTACTTCTCAGAAGGGAGCAGGTGGTTGTTGAGGGAGCAATGAGCAAGGGTTACGGGGAAAGGACAGCTTCTCGGCACCCAGAAGTTCCTGACTGGACAACAGGGCACGTACCTTGGCTCCAGGAGCACCAGGGAAGCCAGGACCACCAGCAGGACCGACAGGACCCTGGAGAGAGTAGGCGGATGAGAAGAGAGGTGAATGCCAGTTCTGGCCTCCAAAGCGAGCCACCCCGACACCTCACACTCCTTCCCTCCTCTGTACTGATTTCACTCCATATCCATTGTGGCTAAAAGGCCTTGGATGAAAATTGTCCCCATTGCCAGCGTCCCCAGGAAACTTTGCCTGGCTTCAGAAGGCAAAGCAAGTTTCTGACTACATCTGTGGTGAGAAGCAGAAACTCCTTTGACCTCCCTCCTCTAAAAAGACTGCTGAAAGGATGGCTGAGGAAAATGAGCCCATGCTTCAAAGCTTGTTATCGATATGCTCAATTGATATTTACAAACTTCTTCTCTTTCCTCCCCCTTTCCAGTAGACATCAGAGTGCTGCTGTGGTTGCACCCAATACACCCTGCAGACTGCCTTGGGC
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GAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACTGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGCAGAGTCCCTGGGGAGGGCTGCTGACCTGGAGAGAGGGCAGAGCCTCCTCAGGTTTCTTCTCAGAACATTCCTGCTTCACTGTGGTAATTATTATTTTCAAAAGGTCAGCCCCCCTCACCTTCCGCTGTCCCTCTTCACAATGGGTCTCCTTCACCCGGCTCCGGGACCTCAGACACTGTCTGGTTGCCATGGAAACCCCCAGGAGGGGAAAAGCAACCTGATGCCAGTGACACATGGAGGCTCCTTATTCATTCCCAGGGACGTTCACACTGGAATCCTTCCTGGGCTGCGAGGCCTGTCCCTGAACTGGCTGGCCTCCCACTGGCCTCTAGTAATCCTCCAGAGAACTCCGTTAACATGGTTTGGAAGAGCCAGGCACCCCAAATAAAGCAGAAACCCAGAGGGGAGCAGGGGCTCCCTGCCTGTGCCCTTTTCCCTGCCCAGTTCCCTCCAGTGCCCGTCAGGGCCCCGAGCTTGCTCAGCTGTTGGGTCTCCCCTAGGTTTGCTTCCCTGTGCTGCCACTCCTGGCCTTCTGCCCCTGCCAGGCCTATGGTGTATCCCCGTCTTCTTCTCTGTCCACCTTTCCCCACTCCAAAGTTGTAACTGGATCTCCCACATTTTATCTTCTGTCTTACTTTCCCTCCAGGTGAGACTGCGAGTGTCTGGCTTTTTGCCCTGCCTGGATGGAGGGGCCAGTGGGTGGGGTGGTGGGGAGCTACTTCTCAGAAGGGAGCAGGTGGTTGTTGAGGGAGCAATGAGCAAGGGTTACGGGGAAAGGACAGCTTCTCGGCACCCAGAAGTTCCTGACTGGACAACAGGGCACGTACCTTGGCTCCAGGAGCACCAGGGAAGCCAGGACCACCAGCAGGACCGACAGGACCCTGGAGAGAGTAGGCGGATGAGAAGAGAGGTGAATGCCAGTTCTGGCCTCCAAAGCGAGCCACCCCGACACCTCACACTCCTTCCCTCCTCTGTACTGATTTCACTCCATATCCATTGTGGCTAAAAGGCCTTGGATGAAAATTGTCCCCATTGCCAGCGTCCCCAGGAAACTTTGCCTGGCTTCAGAAGGCAAAGCAAGTTTCTGACTACATCTGTGGTGAGAAGCAGAAACTCCTTTGACCTCCCTCCTCTAAAAAGACTGCTGAAAGGATGGCTGAGGAAAATGAGCCCATGCTTCAAAGCTTGTTATCGATATGCTCAATTGATATTTACAAACTTCTTCTCTTTCCTCCCCCTTTCCAGTAGACATCAGAGTGCTGCTGTGGTTGCACCCAATACACCCTGCAGACTGCCTTGGGC
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Task1_train_17485
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This variant lies on Chromosome 12 and affects the gene COL2A1 (collagen type II alpha 1 chain). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Stickler syndrome type 1
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GAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGCAGAGTCCCTGGGGAGGGCTGCTGACCTGGAGAGAGGGCAGAGCCTCCTCAGGTTTCTTCTCAGAACATTCCTGCTTCACTGTGGTAATTATTATTTTCAAAAGGTCAGCCCCCCTCACCTTCCGCTGTCCCTCTTCACAATGGGTCTCCTTCACCCGGCTCCGGGACCTCAGACACTGTCTGGTTGCCATGGAAACCCCCAGGAGGGGAAAAGCAACCTGATGCCAGTGACACATGGAGGCTCCTTATTCATTCCCAGGGACGTTCACACTGGAATCCTTCCTGGGCTGCGAGGCCTGTCCCTGAACTGGCTGGCCTCCCACTGGCCTCTAGTAATCCTCCAGAGAACTCCGTTAACATGGTTTGGAAGAGCCAGGCACCCCAAATAAAGCAGAAACCCAGAGGGGAGCAGGGGCTCCCTGCCTGTGCCCTTTTCCCTGCCCAGTTCCCTCCAGTGCCCGTCAGGGCCCCGAGCTTGCTCAGCTGTTGGGTCTCCCCTAGGTTTGCTTCCCTGTGCTGCCACTCCTGGCCTTCTGCCCCTGCCAGGCCTATGGTGTATCCCCGTCTTCTTCTCTGTCCACCTTTCCCCACTCCAAAGTTGTAACTGGATCTCCCACATTTTATCTTCTGTCTTACTTTCCCTCCAGGTGAGACTGCGAGTGTCTGGCTTTTTGCCCTGCCTGGATGGAGGGGCCAGTGGGTGGGGTGGTGGGGAGCTACTTCTCAGAAGGGAGCAGGTGGTTGTTGAGGGAGCAATGAGCAAGGGTTACGGGGAAAGGACAGCTTCTCGGCACCCAGAAGTTCCTGACTGGACAACAGGGCACGTACCTTGGCTCCAGGAGCACCAGGGAAGCCAGGACCACCAGCAGGACCGACAGGACCCTGGAGAGAGTAGGCGGATGAGAAGAGAGGTGAATGCCAGTTCTGGCCTCCAAAGCGAGCCACCCCGACACCTCACACTCCTTCCCTCCTCTGTACTGATTTCACTCCATATCCATTGTGGCTAAAAGGCCTTGGATGAAAATTGTCCCCATTGCCAGCGTCCCCAGGAAACTTTGCCTGGCTTCAGAAGGCAAAGCAAGTTTCTGACTACATCTGTGGTGAGAAGCAGAAACTCCTTTGACCTCCCTCCTCTAAAAAGACTGCTGAAAGGATGGCTGAGGAAAATGAGCCCATGCTTCAAAGCTTGTTATCGATATGCTCAATTGATATTTACAAACTTCTTCTCTTTCCTCCCCCTTTCCAGTAGACATCAGAGTGCTGCTGTGGTTGCACCCAATACACCCTGCAGACTGCCTTGGGC
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GAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACTGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGCAGAGTCCCTGGGGAGGGCTGCTGACCTGGAGAGAGGGCAGAGCCTCCTCAGGTTTCTTCTCAGAACATTCCTGCTTCACTGTGGTAATTATTATTTTCAAAAGGTCAGCCCCCCTCACCTTCCGCTGTCCCTCTTCACAATGGGTCTCCTTCACCCGGCTCCGGGACCTCAGACACTGTCTGGTTGCCATGGAAACCCCCAGGAGGGGAAAAGCAACCTGATGCCAGTGACACATGGAGGCTCCTTATTCATTCCCAGGGACGTTCACACTGGAATCCTTCCTGGGCTGCGAGGCCTGTCCCTGAACTGGCTGGCCTCCCACTGGCCTCTAGTAATCCTCCAGAGAACTCCGTTAACATGGTTTGGAAGAGCCAGGCACCCCAAATAAAGCAGAAACCCAGAGGGGAGCAGGGGCTCCCTGCCTGTGCCCTTTTCCCTGCCCAGTTCCCTCCAGTGCCCGTCAGGGCCCCGAGCTTGCTCAGCTGTTGGGTCTCCCCTAGGTTTGCTTCCCTGTGCTGCCACTCCTGGCCTTCTGCCCCTGCCAGGCCTATGGTGTATCCCCGTCTTCTTCTCTGTCCACCTTTCCCCACTCCAAAGTTGTAACTGGATCTCCCACATTTTATCTTCTGTCTTACTTTCCCTCCAGGTGAGACTGCGAGTGTCTGGCTTTTTGCCCTGCCTGGATGGAGGGGCCAGTGGGTGGGGTGGTGGGGAGCTACTTCTCAGAAGGGAGCAGGTGGTTGTTGAGGGAGCAATGAGCAAGGGTTACGGGGAAAGGACAGCTTCTCGGCACCCAGAAGTTCCTGACTGGACAACAGGGCACGTACCTTGGCTCCAGGAGCACCAGGGAAGCCAGGACCACCAGCAGGACCGACAGGACCCTGGAGAGAGTAGGCGGATGAGAAGAGAGGTGAATGCCAGTTCTGGCCTCCAAAGCGAGCCACCCCGACACCTCACACTCCTTCCCTCCTCTGTACTGATTTCACTCCATATCCATTGTGGCTAAAAGGCCTTGGATGAAAATTGTCCCCATTGCCAGCGTCCCCAGGAAACTTTGCCTGGCTTCAGAAGGCAAAGCAAGTTTCTGACTACATCTGTGGTGAGAAGCAGAAACTCCTTTGACCTCCCTCCTCTAAAAAGACTGCTGAAAGGATGGCTGAGGAAAATGAGCCCATGCTTCAAAGCTTGTTATCGATATGCTCAATTGATATTTACAAACTTCTTCTCTTTCCTCCCCCTTTCCAGTAGACATCAGAGTGCTGCTGTGGTTGCACCCAATACACCCTGCAGACTGCCTTGGGC
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Task1_train_17486
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A mutation on Chromosome 12 affecting COL2A1 (collagen type II alpha 1 chain) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; not provided
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AATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGCAGAGTCCCTGGGGAGGGCTGCTGACCTGGAGAGAGGGCAGAGCCTCCTCAGGTTTCTTCTCAGAACATTCCTGCTTCACTGTGGTAATTATTATTTTCAAAAGGTCAGCCCCCCTCACCTTCCGCTGTCCCTCTTCACAATGGGTCTCCTTCACCCGGCTCCGGGACCTCAGACACTGTCTGGTTGCCATGGAAACCCCCAGGAGGGGAAAAGCAACCTGATGCCAGTGACACATGGAGGCTCCTTATTCATTCCCAGGGACGTTCACACTGGAATCCTTCCTGGGCTGCGAGGCCTGTCCCTGAACTGGCTGGCCTCCCACTGGCCTCTAGTAATCCTCCAGAGAACTCCGTTAACATGGTTTGGAAGAGCCAGGCACCCCAAATAAAGCAGAAACCCAGAGGGGAGCAGGGGCTCCCTGCCTGTGCCCTTTTCCCTGCCCAGTTCCCTCCAGTGCCCGTCAGGGCCCCGAGCTTGCTCAGCTGTTGGGTCTCCCCTAGGTTTGCTTCCCTGTGCTGCCACTCCTGGCCTTCTGCCCCTGCCAGGCCTATGGTGTATCCCCGTCTTCTTCTCTGTCCACCTTTCCCCACTCCAAAGTTGTAACTGGATCTCCCACATTTTATCTTCTGTCTTACTTTCCCTCCAGGTGAGACTGCGAGTGTCTGGCTTTTTGCCCTGCCTGGATGGAGGGGCCAGTGGGTGGGGTGGTGGGGAGCTACTTCTCAGAAGGGAGCAGGTGGTTGTTGAGGGAGCAATGAGCAAGGGTTACGGGGAAAGGACAGCTTCTCGGCACCCAGAAGTTCCTGACTGGACAACAGGGCACGTACCTTGGCTCCAGGAGCACCAGGGAAGCCAGGACCACCAGCAGGACCGACAGGACCCTGGAGAGAGTAGGCGGATGAGAAGAGAGGTGAATGCCAGTTCTGGCCTCCAAAGCGAGCCACCCCGACACCTCACACTCCTTCCCTCCTCTGTACTGATTTCACTCCATATCCATTGTGGCTAAAAGGCCTTGGATGAAAATTGTCCCCATTGCCAGCGTCCCCAGGAAACTTTGCCTGGCTTCAGAAGGCAAAGCAAGTTTCTGACTACATCTGTGGTGAGAAGCAGAAACTCCTTTGACCTCCCTCCTCTAAAAAGACTGCTGAAAGGATGGCTGAGGAAAATGAGCCCATGCTTCAAAGCTTGTTATCGATATGCTCAATTGATATTTACAAACTTCTTCTCTTTCCTCCCCCTTTCCAGTAGACATCAGAGTGCTGCTGTGGTTGCACCCAATACACCCTGCAGACTGCCTTGGGCTGCTTAACGGGACTTAAAGCACAGCAACAATGACC
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AATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCATCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGCAGAGTCCCTGGGGAGGGCTGCTGACCTGGAGAGAGGGCAGAGCCTCCTCAGGTTTCTTCTCAGAACATTCCTGCTTCACTGTGGTAATTATTATTTTCAAAAGGTCAGCCCCCCTCACCTTCCGCTGTCCCTCTTCACAATGGGTCTCCTTCACCCGGCTCCGGGACCTCAGACACTGTCTGGTTGCCATGGAAACCCCCAGGAGGGGAAAAGCAACCTGATGCCAGTGACACATGGAGGCTCCTTATTCATTCCCAGGGACGTTCACACTGGAATCCTTCCTGGGCTGCGAGGCCTGTCCCTGAACTGGCTGGCCTCCCACTGGCCTCTAGTAATCCTCCAGAGAACTCCGTTAACATGGTTTGGAAGAGCCAGGCACCCCAAATAAAGCAGAAACCCAGAGGGGAGCAGGGGCTCCCTGCCTGTGCCCTTTTCCCTGCCCAGTTCCCTCCAGTGCCCGTCAGGGCCCCGAGCTTGCTCAGCTGTTGGGTCTCCCCTAGGTTTGCTTCCCTGTGCTGCCACTCCTGGCCTTCTGCCCCTGCCAGGCCTATGGTGTATCCCCGTCTTCTTCTCTGTCCACCTTTCCCCACTCCAAAGTTGTAACTGGATCTCCCACATTTTATCTTCTGTCTTACTTTCCCTCCAGGTGAGACTGCGAGTGTCTGGCTTTTTGCCCTGCCTGGATGGAGGGGCCAGTGGGTGGGGTGGTGGGGAGCTACTTCTCAGAAGGGAGCAGGTGGTTGTTGAGGGAGCAATGAGCAAGGGTTACGGGGAAAGGACAGCTTCTCGGCACCCAGAAGTTCCTGACTGGACAACAGGGCACGTACCTTGGCTCCAGGAGCACCAGGGAAGCCAGGACCACCAGCAGGACCGACAGGACCCTGGAGAGAGTAGGCGGATGAGAAGAGAGGTGAATGCCAGTTCTGGCCTCCAAAGCGAGCCACCCCGACACCTCACACTCCTTCCCTCCTCTGTACTGATTTCACTCCATATCCATTGTGGCTAAAAGGCCTTGGATGAAAATTGTCCCCATTGCCAGCGTCCCCAGGAAACTTTGCCTGGCTTCAGAAGGCAAAGCAAGTTTCTGACTACATCTGTGGTGAGAAGCAGAAACTCCTTTGACCTCCCTCCTCTAAAAAGACTGCTGAAAGGATGGCTGAGGAAAATGAGCCCATGCTTCAAAGCTTGTTATCGATATGCTCAATTGATATTTACAAACTTCTTCTCTTTCCTCCCCCTTTCCAGTAGACATCAGAGTGCTGCTGTGGTTGCACCCAATACACCCTGCAGACTGCCTTGGGCTGCTTAACGGGACTTAAAGCACAGCAACAATGACC
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Task1_train_17487
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Given a variant located on Chromosome 12 and affecting COL2A1 (collagen type II alpha 1 chain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Otospondylomegaepiphyseal dysplasia, autosomal dominant
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CAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGCAGAGTCCCTGGGGAGGGCTGCTGACCTGGAGAGAGGGCAGAGCCTCCTCAGGTTTCTTCTCAGAACATTCCTGCTTCACTGTGGTAATTATTATTTTCAAAAGGTCAGCCCCCCTCACCTTCCGCTGTCCCTCTTCACAATGGGTCTCCTTCACCCGGCTCCGGGACCTCAGACACTGTCTGGTTGCCATGGAAACCCCCAGGAGGGGAAAAGCAACCTGATGCCAGTGACACATGGAGGCTCCTTATTCATTCCCAGGGACGTTCACACTGGAATCCTTCCTGGGCTGCGAGGCCTGTCCCTGAACTGGCTGGCCTCCCACTGGCCTCTAGTAATCCTCCAGAGAACTCCGTTAACATGGTTTGGAAGAGCCAGGCACCCCAAATAAAGCAGAAACCCAGAGGGGAGCAGGGGCTCCCTGCCTGTGCCCTTTTCCCTGCCCAGTTCCCTCCAGTGCCCGTCAGGGCCCCGAGCTTGCTCAGCTGTTGGGTCTCCCCTAGGTTTGCTTCCCTGTGCTGCCACTCCTGGCCTTCTGCCCCTGCCAGGCCTATGGTGTATCCCCGTCTTCTTCTCTGTCCACCTTTCCCCACTCCAAAGTTGTAACTGGATCTCCCACATTTTATCTTCTGTCTTACTTTCCCTCCAGGTGAGACTGCGAGTGTCTGGCTTTTTGCCCTGCCTGGATGGAGGGGCCAGTGGGTGGGGTGGTGGGGAGCTACTTCTCAGAAGGGAGCAGGTGGTTGTTGAGGGAGCAATGAGCAAGGGTTACGGGGAAAGGACAGCTTCTCGGCACCCAGAAGTTCCTGACTGGACAACAGGGCACGTACCTTGGCTCCAGGAGCACCAGGGAAGCCAGGACCACCAGCAGGACCGACAGGACCCTGGAGAGAGTAGGCGGATGAGAAGAGAGGTGAATGCCAGTTCTGGCCTCCAAAGCGAGCCACCCCGACACCTCACACTCCTTCCCTCCTCTGTACTGATTTCACTCCATATCCATTGTGGCTAAAAGGCCTTGGATGAAAATTGTCCCCATTGCCAGCGTCCCCAGGAAACTTTGCCTGGCTTCAGAAGGCAAAGCAAGTTTCTGACTACATCTGTGGTGAGAAGCAGAAACTCCTTTGACCTCCCTCCTCTAAAAAGACTGCTGAAAGGATGGCTGAGGAAAATGAGCCCATGCTTCAAAGCTTGTTATCGATATGCTCAATTGATATTTACAAACTTCTTCTCTTTCCTCCCCCTTTCCAGTAGACATCAGAGTGCTGCTGTGGTTGCACCCAATACACCCTGCAGACTGCCTTGGGCTGCTTAACGGGACTTAAAGCACAGCAACAATGACCTGCTGAGGATGAA
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CAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGAAGCCAGCAATACCAGGTTCACCCTTGAAAAGAGAGGCAGGTCCTCACACCAGATTCTCTCCAGGGAGCCTGCCCCTCCCCAGAACCCCTGTTCAAGATGCCCTCGGATGGAGGCCGCTGTGAGGCCAGGGCAGGAGAGCATGGGAAAGAGGGGTGATGGGGTTTGACTCCAGAGATGTCAGTGGAACTTGGGGGTCACTTTGGGCTCTTACCGTCTGACCTTTCGGGCCCAGAGGACCAGTTGCACCTTGAGGGCCAGGAGGGCCCCGTGGCCCAGGGAAGCCAGGAGCACCAGCAATGCCAGGAGCACCCTGTGGGCATGAGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGTTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGCAGAGTCCCTGGGGAGGGCTGCTGACCTGGAGAGAGGGCAGAGCCTCCTCAGGTTTCTTCTCAGAACATTCCTGCTTCACTGTGGTAATTATTATTTTCAAAAGGTCAGCCCCCCTCACCTTCCGCTGTCCCTCTTCACAATGGGTCTCCTTCACCCGGCTCCGGGACCTCAGACACTGTCTGGTTGCCATGGAAACCCCCAGGAGGGGAAAAGCAACCTGATGCCAGTGACACATGGAGGCTCCTTATTCATTCCCAGGGACGTTCACACTGGAATCCTTCCTGGGCTGCGAGGCCTGTCCCTGAACTGGCTGGCCTCCCACTGGCCTCTAGTAATCCTCCAGAGAACTCCGTTAACATGGTTTGGAAGAGCCAGGCACCCCAAATAAAGCAGAAACCCAGAGGGGAGCAGGGGCTCCCTGCCTGTGCCCTTTTCCCTGCCCAGTTCCCTCCAGTGCCCGTCAGGGCCCCGAGCTTGCTCAGCTGTTGGGTCTCCCCTAGGTTTGCTTCCCTGTGCTGCCACTCCTGGCCTTCTGCCCCTGCCAGGCCTATGGTGTATCCCCGTCTTCTTCTCTGTCCACCTTTCCCCACTCCAAAGTTGTAACTGGATCTCCCACATTTTATCTTCTGTCTTACTTTCCCTCCAGGTGAGACTGCGAGTGTCTGGCTTTTTGCCCTGCCTGGATGGAGGGGCCAGTGGGTGGGGTGGTGGGGAGCTACTTCTCAGAAGGGAGCAGGTGGTTGTTGAGGGAGCAATGAGCAAGGGTTACGGGGAAAGGACAGCTTCTCGGCACCCAGAAGTTCCTGACTGGACAACAGGGCACGTACCTTGGCTCCAGGAGCACCAGGGAAGCCAGGACCACCAGCAGGACCGACAGGACCCTGGAGAGAGTAGGCGGATGAGAAGAGAGGTGAATGCCAGTTCTGGCCTCCAAAGCGAGCCACCCCGACACCTCACACTCCTTCCCTCCTCTGTACTGATTTCACTCCATATCCATTGTGGCTAAAAGGCCTTGGATGAAAATTGTCCCCATTGCCAGCGTCCCCAGGAAACTTTGCCTGGCTTCAGAAGGCAAAGCAAGTTTCTGACTACATCTGTGGTGAGAAGCAGAAACTCCTTTGACCTCCCTCCTCTAAAAAGACTGCTGAAAGGATGGCTGAGGAAAATGAGCCCATGCTTCAAAGCTTGTTATCGATATGCTCAATTGATATTTACAAACTTCTTCTCTTTCCTCCCCCTTTCCAGTAGACATCAGAGTGCTGCTGTGGTTGCACCCAATACACCCTGCAGACTGCCTTGGGCTGCTTAACGGGACTTAAAGCACAGCAACAATGACCTGCTGAGGATGAA
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Task1_train_17488
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The following genetic variant occurs in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Spondyloepiphyseal dysplasia congenita
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AGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGCAGAGTCCCTGGGGAGGGCTGCTGACCTGGAGAGAGGGCAGAGCCTCCTCAGGTTTCTTCTCAGAACATTCCTGCTTCACTGTGGTAATTATTATTTTCAAAAGGTCAGCCCCCCTCACCTTCCGCTGTCCCTCTTCACAATGGGTCTCCTTCACCCGGCTCCGGGACCTCAGACACTGTCTGGTTGCCATGGAAACCCCCAGGAGGGGAAAAGCAACCTGATGCCAGTGACACATGGAGGCTCCTTATTCATTCCCAGGGACGTTCACACTGGAATCCTTCCTGGGCTGCGAGGCCTGTCCCTGAACTGGCTGGCCTCCCACTGGCCTCTAGTAATCCTCCAGAGAACTCCGTTAACATGGTTTGGAAGAGCCAGGCACCCCAAATAAAGCAGAAACCCAGAGGGGAGCAGGGGCTCCCTGCCTGTGCCCTTTTCCCTGCCCAGTTCCCTCCAGTGCCCGTCAGGGCCCCGAGCTTGCTCAGCTGTTGGGTCTCCCCTAGGTTTGCTTCCCTGTGCTGCCACTCCTGGCCTTCTGCCCCTGCCAGGCCTATGGTGTATCCCCGTCTTCTTCTCTGTCCACCTTTCCCCACTCCAAAGTTGTAACTGGATCTCCCACATTTTATCTTCTGTCTTACTTTCCCTCCAGGTGAGACTGCGAGTGTCTGGCTTTTTGCCCTGCCTGGATGGAGGGGCCAGTGGGTGGGGTGGTGGGGAGCTACTTCTCAGAAGGGAGCAGGTGGTTGTTGAGGGAGCAATGAGCAAGGGTTACGGGGAAAGGACAGCTTCTCGGCACCCAGAAGTTCCTGACTGGACAACAGGGCACGTACCTTGGCTCCAGGAGCACCAGGGAAGCCAGGACCACCAGCAGGACCGACAGGACCCTGGAGAGAGTAGGCGGATGAGAAGAGAGGTGAATGCCAGTTCTGGCCTCCAAAGCGAGCCACCCCGACACCTCACACTCCTTCCCTCCTCTGTACTGATTTCACTCCATATCCATTGTGGCTAAAAGGCCTTGGATGAAAATTGTCCCCATTGCCAGCGTCCCCAGGAAACTTTGCCTGGCTTCAGAAGGCAAAGCAAGTTTCTGACTACATCTGTGGTGAGAAGCAGAAACTCCTTTGACCTCCCTCCTCTAAAAAGACTGCTGAAAGGATGGCTGAGGAAAATGAGCCCATGCTTCAAAGCTTGTTATCGATATGCTCAATTGATATTTACAAACTTCTTCTCTTTCCTCCCCCTTTCCAGTAGACATCAGAGTGCTGCTGTGGTTGCACCCAATACACCCTGCAGACTGCCTTGGGCTGCTTAACGGGACTTAAAGCACAGCAACAATGACCTGCTGAGGATGAAATGAACTTACCGGAGGCCCTGCGGGGCCTGGCTGACCATCGTTGCCTCGGGCACCCTGTGAGCAAGAAGGAAGTGACCATGAGAGGTGCCCACAGGCCCTGTCCGTCCCTGCTCCCAGCCCACCCTTACAGAAAACGAAGGACACACTGTGCCTGGGGTGTCCCAGGGCAGAGCACGAGGATGGCGAGGTGTGGGCTGCAGTTTTGGTGTCTGTGCGAGTGGGTGGCCAGAAGGCAGTAATGGGCTTCTTCTAATCTTTTTTTGTTGTTGTTTTTGAGACGGAGTCTGGCTCTGTCGCCAGGCTGGAGTGCAGTGGTGCGGTCTTGGCTCACTACAACCTCCACCTCTCAAGTTCAAGCAATTCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGCATGTGTCACCACACCTGGCTATTTTTTTTATTGTTATTTTTAGTAGAGACTGGGTTTTGCTATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGGCTCCCAAGGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCCCTAATCTTAAACAAAGCTTAAATCATTTTCTCTTTTCTTCAACTTCAGTTCAGACCCCAAATATCCGTAACTTCAAGGCCAAGTGATCATTTAAAGACTGAGAGAATTGAGTGTAAGGAAATGAAACAGCGAGGCAACCATGTGGACTCAGTGCTTCCTGCCTGCTCAGGGGGAAGCGCTTTCAAGGCTTGGTTAACCTCTGTGGTTAAGGCTTGGTTAAGGCCTCCTCTTGGTTGACTCCAGGTTGCCTCTTCCTCTGGCCCATCCCCAGACAGCCTGCTCTTACGGAAAACAAAGATGCCCATAGGATGTCTACCATTGGCTCCCTGATGGGGCAGGGCACCAGCCACAGCTCAAACACTACATCTGAGCTCAAGCCCTAAGAGGCTTTTGCTTACAAAGCAAGGCAAGGTTGCCAGCTCCTTCTCTAGGACTGGACTTGGAGGGGGAGGGTTTTTTCTGCCAAGTTTGTGGTGGCACCCCTCAAATGCTCTCTCAAGGTTCCTTAAGGCCCAGGGAACTCTTTACCGAAACTCTGGGGGCCACAGGCTGGGTGGAGCTGGGCCTAGGGCCTGACTGAGCAGGTCAGGGGGGTACCTTTTCCTGCTGAGTCCTGCCTGTCAGTCTCTGCCTCTCCTTAGAAGCTAAAGAAGGATGCTTTAGGGGGAGCTCGTGTTTTAAATACAACTCAACTCTTCTTCCTGGCTGGGGTCCATTTCTCCTAACGGAGACTCTCCAGATTGGCATTTAAGAGGAAAGCAAGAGAAAACTTAGAAAAAATGTCAGCAGGAACATAAAGCTTCAGGATTGGCCACAGCCCCTCTGGGCTGGCCTGGCTGCTTCGGGAAGCAGTTCCTTGGGGAGCTCTGGAGCACCCTCTCCCCAGGGGTCAGCCAGCAGGAGGGCCCAGCCTGGGCCTGAGTGAAAGGGAGCTGCCATGCTGCTCTGAGAGGCCAGAACTAGGCTGACATCT
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AGAAGAAGGGAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGCAGAGTCCCTGGGGAGGGCTGCTGACCTGGAGAGAGGGCAGAGCCTCCTCAGGTTTCTTCTCAGAACATTCCTGCTTCACTGTGGTAATTATTATTTTCAAAAGGTCAGCCCCCCTCACCTTCCGCTGTCCCTCTTCACAATGGGTCTCCTTCACCCGGCTCCGGGACCTCAGACACTGTCTGGTTGCCATGGAAACCCCCAGGAGGGGAAAAGCAACCTGATGCCAGTGACACATGGAGGCTCCTTATTCATTCCCAGGGACGTTCACACTGGAATCCTTCCTGGGCTGCGAGGCCTGTCCCTGAACTGGCTGGCCTCCCACTGGCCTCTAGTAATCCTCCAGAGAACTCCGTTAACATGGTTTGGAAGAGCCAGGCACCCCAAATAAAGCAGAAACCCAGAGGGGAGCAGGGGCTCCCTGCCTGTGCCCTTTTCCCTGCCCAGTTCCCTCCAGTGCCCGTCAGGGCCCCGAGCTTGCTCAGCTGTTGGGTCTCCCCTAGGTTTGCTTCCCTGTGCTGCCACTCCTGGCCTTCTGCCCCTGCCAGGCCTATGGTGTATCCCCGTCTTCTTCTCTGTCCACCTTTCCCCACTCCAAAGTTGTAACTGGATCTCCCACATTTTATCTTCTGTCTTACTTTCCCTCCAGGTGAGACTGCGAGTGTCTGGCTTTTTGCCCTGCCTGGATGGAGGGGCCAGTGGGTGGGGTGGTGGGGAGCTACTTCTCAGAAGGGAGCAGGTGGTTGTTGAGGGAGCAATGAGCAAGGGTTACGGGGAAAGGACAGCTTCTCGGCACCCAGAAGTTCCTGACTGGACAACAGGGCACGTACCTTGGCTCTAGGAGCACCAGGGAAGCCAGGACCACCAGCAGGACCGACAGGACCCTGGAGAGAGTAGGCGGATGAGAAGAGAGGTGAATGCCAGTTCTGGCCTCCAAAGCGAGCCACCCCGACACCTCACACTCCTTCCCTCCTCTGTACTGATTTCACTCCATATCCATTGTGGCTAAAAGGCCTTGGATGAAAATTGTCCCCATTGCCAGCGTCCCCAGGAAACTTTGCCTGGCTTCAGAAGGCAAAGCAAGTTTCTGACTACATCTGTGGTGAGAAGCAGAAACTCCTTTGACCTCCCTCCTCTAAAAAGACTGCTGAAAGGATGGCTGAGGAAAATGAGCCCATGCTTCAAAGCTTGTTATCGATATGCTCAATTGATATTTACAAACTTCTTCTCTTTCCTCCCCCTTTCCAGTAGACATCAGAGTGCTGCTGTGGTTGCACCCAATACACCCTGCAGACTGCCTTGGGCTGCTTAACGGGACTTAAAGCACAGCAACAATGACCTGCTGAGGATGAAATGAACTTACCGGAGGCCCTGCGGGGCCTGGCTGACCATCGTTGCCTCGGGCACCCTGTGAGCAAGAAGGAAGTGACCATGAGAGGTGCCCACAGGCCCTGTCCGTCCCTGCTCCCAGCCCACCCTTACAGAAAACGAAGGACACACTGTGCCTGGGGTGTCCCAGGGCAGAGCACGAGGATGGCGAGGTGTGGGCTGCAGTTTTGGTGTCTGTGCGAGTGGGTGGCCAGAAGGCAGTAATGGGCTTCTTCTAATCTTTTTTTGTTGTTGTTTTTGAGACGGAGTCTGGCTCTGTCGCCAGGCTGGAGTGCAGTGGTGCGGTCTTGGCTCACTACAACCTCCACCTCTCAAGTTCAAGCAATTCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGCATGTGTCACCACACCTGGCTATTTTTTTTATTGTTATTTTTAGTAGAGACTGGGTTTTGCTATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGGCTCCCAAGGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCCCTAATCTTAAACAAAGCTTAAATCATTTTCTCTTTTCTTCAACTTCAGTTCAGACCCCAAATATCCGTAACTTCAAGGCCAAGTGATCATTTAAAGACTGAGAGAATTGAGTGTAAGGAAATGAAACAGCGAGGCAACCATGTGGACTCAGTGCTTCCTGCCTGCTCAGGGGGAAGCGCTTTCAAGGCTTGGTTAACCTCTGTGGTTAAGGCTTGGTTAAGGCCTCCTCTTGGTTGACTCCAGGTTGCCTCTTCCTCTGGCCCATCCCCAGACAGCCTGCTCTTACGGAAAACAAAGATGCCCATAGGATGTCTACCATTGGCTCCCTGATGGGGCAGGGCACCAGCCACAGCTCAAACACTACATCTGAGCTCAAGCCCTAAGAGGCTTTTGCTTACAAAGCAAGGCAAGGTTGCCAGCTCCTTCTCTAGGACTGGACTTGGAGGGGGAGGGTTTTTTCTGCCAAGTTTGTGGTGGCACCCCTCAAATGCTCTCTCAAGGTTCCTTAAGGCCCAGGGAACTCTTTACCGAAACTCTGGGGGCCACAGGCTGGGTGGAGCTGGGCCTAGGGCCTGACTGAGCAGGTCAGGGGGGTACCTTTTCCTGCTGAGTCCTGCCTGTCAGTCTCTGCCTCTCCTTAGAAGCTAAAGAAGGATGCTTTAGGGGGAGCTCGTGTTTTAAATACAACTCAACTCTTCTTCCTGGCTGGGGTCCATTTCTCCTAACGGAGACTCTCCAGATTGGCATTTAAGAGGAAAGCAAGAGAAAACTTAGAAAAAATGTCAGCAGGAACATAAAGCTTCAGGATTGGCCACAGCCCCTCTGGGCTGGCCTGGCTGCTTCGGGAAGCAGTTCCTTGGGGAGCTCTGGAGCACCCTCTCCCCAGGGGTCAGCCAGCAGGAGGGCCCAGCCTGGGCCTGAGTGAAAGGGAGCTGCCATGCTGCTCTGAGAGGCCAGAACTAGGCTGACATCT
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Task1_train_17489
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The variant affects gene COL2A1 (collagen type II alpha 1 chain), which is on Chromosome 12. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Spondyloepiphyseal dysplasia congenita
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GAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGCAGAGTCCCTGGGGAGGGCTGCTGACCTGGAGAGAGGGCAGAGCCTCCTCAGGTTTCTTCTCAGAACATTCCTGCTTCACTGTGGTAATTATTATTTTCAAAAGGTCAGCCCCCCTCACCTTCCGCTGTCCCTCTTCACAATGGGTCTCCTTCACCCGGCTCCGGGACCTCAGACACTGTCTGGTTGCCATGGAAACCCCCAGGAGGGGAAAAGCAACCTGATGCCAGTGACACATGGAGGCTCCTTATTCATTCCCAGGGACGTTCACACTGGAATCCTTCCTGGGCTGCGAGGCCTGTCCCTGAACTGGCTGGCCTCCCACTGGCCTCTAGTAATCCTCCAGAGAACTCCGTTAACATGGTTTGGAAGAGCCAGGCACCCCAAATAAAGCAGAAACCCAGAGGGGAGCAGGGGCTCCCTGCCTGTGCCCTTTTCCCTGCCCAGTTCCCTCCAGTGCCCGTCAGGGCCCCGAGCTTGCTCAGCTGTTGGGTCTCCCCTAGGTTTGCTTCCCTGTGCTGCCACTCCTGGCCTTCTGCCCCTGCCAGGCCTATGGTGTATCCCCGTCTTCTTCTCTGTCCACCTTTCCCCACTCCAAAGTTGTAACTGGATCTCCCACATTTTATCTTCTGTCTTACTTTCCCTCCAGGTGAGACTGCGAGTGTCTGGCTTTTTGCCCTGCCTGGATGGAGGGGCCAGTGGGTGGGGTGGTGGGGAGCTACTTCTCAGAAGGGAGCAGGTGGTTGTTGAGGGAGCAATGAGCAAGGGTTACGGGGAAAGGACAGCTTCTCGGCACCCAGAAGTTCCTGACTGGACAACAGGGCACGTACCTTGGCTCCAGGAGCACCAGGGAAGCCAGGACCACCAGCAGGACCGACAGGACCCTGGAGAGAGTAGGCGGATGAGAAGAGAGGTGAATGCCAGTTCTGGCCTCCAAAGCGAGCCACCCCGACACCTCACACTCCTTCCCTCCTCTGTACTGATTTCACTCCATATCCATTGTGGCTAAAAGGCCTTGGATGAAAATTGTCCCCATTGCCAGCGTCCCCAGGAAACTTTGCCTGGCTTCAGAAGGCAAAGCAAGTTTCTGACTACATCTGTGGTGAGAAGCAGAAACTCCTTTGACCTCCCTCCTCTAAAAAGACTGCTGAAAGGATGGCTGAGGAAAATGAGCCCATGCTTCAAAGCTTGTTATCGATATGCTCAATTGATATTTACAAACTTCTTCTCTTTCCTCCCCCTTTCCAGTAGACATCAGAGTGCTGCTGTGGTTGCACCCAATACACCCTGCAGACTGCCTTGGGCTGCTTAACGGGACTTAAAGCACAGCAACAATGACCTGCTGAGGATGAAATGAACTTACCGGAGGCCCTGCGGGGCCTGGCTGACCATCGTTGCCTCGGGCACCCTGTGAGCAAGAAGGAAGTGACCATGAGAGGTGCCCACAGGCCCTGTCCGTCCCTGCTCCCAGCCCACCCTTACAGAAAACGAAGGACACACTGTGCCTGGGGTGTCCCAGGGCAGAGCACGAGGATGGCGAGGTGTGGGCTGCAGTTTTGGTGTCTGTGCGAGTGGGTGGCCAGAAGGCAGTAATGGGCTTCTTCTAATCTTTTTTTGTTGTTGTTTTTGAGACGGAGTCTGGCTCTGTCGCCAGGCTGGAGTGCAGTGGTGCGGTCTTGGCTCACTACAACCTCCACCTCTCAAGTTCAAGCAATTCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGCATGTGTCACCACACCTGGCTATTTTTTTTATTGTTATTTTTAGTAGAGACTGGGTTTTGCTATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGGCTCCCAAGGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCCCTAATCTTAAACAAAGCTTAAATCATTTTCTCTTTTCTTCAACTTCAGTTCAGACCCCAAATATCCGTAACTTCAAGGCCAAGTGATCATTTAAAGACTGAGAGAATTGAGTGTAAGGAAATGAAACAGCGAGGCAACCATGTGGACTCAGTGCTTCCTGCCTGCTCAGGGGGAAGCGCTTTCAAGGCTTGGTTAACCTCTGTGGTTAAGGCTTGGTTAAGGCCTCCTCTTGGTTGACTCCAGGTTGCCTCTTCCTCTGGCCCATCCCCAGACAGCCTGCTCTTACGGAAAACAAAGATGCCCATAGGATGTCTACCATTGGCTCCCTGATGGGGCAGGGCACCAGCCACAGCTCAAACACTACATCTGAGCTCAAGCCCTAAGAGGCTTTTGCTTACAAAGCAAGGCAAGGTTGCCAGCTCCTTCTCTAGGACTGGACTTGGAGGGGGAGGGTTTTTTCTGCCAAGTTTGTGGTGGCACCCCTCAAATGCTCTCTCAAGGTTCCTTAAGGCCCAGGGAACTCTTTACCGAAACTCTGGGGGCCACAGGCTGGGTGGAGCTGGGCCTAGGGCCTGACTGAGCAGGTCAGGGGGGTACCTTTTCCTGCTGAGTCCTGCCTGTCAGTCTCTGCCTCTCCTTAGAAGCTAAAGAAGGATGCTTTAGGGGGAGCTCGTGTTTTAAATACAACTCAACTCTTCTTCCTGGCTGGGGTCCATTTCTCCTAACGGAGACTCTCCAGATTGGCATTTAAGAGGAAAGCAAGAGAAAACTTAGAAAAAATGTCAGCAGGAACATAAAGCTTCAGGATTGGCCACAGCCCCTCTGGGCTGGCCTGGCTGCTTCGGGAAGCAGTTCCTTGGGGAGCTCTGGAGCACCCTCTCCCCAGGGGTCAGCCAGCAGGAGGGCCCAGCCTGGGCCTGAGTGAAAGGGAGCTGCCATGCTGCTCTGAGAGGCCAGAACTAGGCTGACATCTGCCACCTCT
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GAGGGGTGTCAGGAGAGGGGAGAGGCAGGACTGGGCTCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGCAGAGTCCCTGGGGAGGGCTGCTGACCTGGAGAGAGGGCAGAGCCTCCTCAGGTTTCTTCTCAGAACATTCCTGCTTCACTGTGGTAATTATTATTTTCAAAAGGTCAGCCCCCCTCACCTTCCGCTGTCCCTCTTCACAATGGGTCTCCTTCACCCGGCTCCGGGACCTCAGACACTGTCTGGTTGCCATGGAAACCCCCAGGAGGGGAAAAGCAACCTGATGCCAGTGACACATGGAGGCTCCTTATTCATTCCCAGGGACGTTCACACTGGAATCCTTCCTGGGCTGCGAGGCCTGTCCCTGAACTGGCTGGCCTCCCACTGGCCTCTAGTAATCCTCCAGAGAACTCCGTTAACATGGTTTGGAAGAGCCAGGCACCCCAAATAAAGCAGAAACCCAGAGGGGAGCAGGGGCTCCCTGCCTGTGCCCTTTTCCCTGCCCAGTTCCCTCCAGTGCCCGTCAGGGCCCCGAGCTTGCTCAGCTGTTGGGTCTCCCCTAGGTTTGCTTCCCTGTGCTGCCACTCCTGGCCTTCTGCCCCTGCCAGGCCTATGGTGTATCCCCGTCTTCTTCTCTGTCCACCTTTCCCCACTCCAAAGTTGTAACTGGATCTCCCACATTTTATCTTCTGTCTTACTTTCCCTCCAGGTGAGACTGCGAGTGTCTGGCTTTTTGCCCTGCCTGGATGGAGGGGCCAGTGGGTGGGGTGGTGGGGAGCTACTTCTCAGAAGGGAGCAGGTGGTTGTTGAGGGAGCAATGAGCAAGGGTTACGGGGAAAGGACAGCTTCTCGGCACCCAGAAGTTCCTGACTGGACAACAGGGCACGTACCTTGGCTCCAGGAGCACGAGGGAAGCCAGGACCACCAGCAGGACCGACAGGACCCTGGAGAGAGTAGGCGGATGAGAAGAGAGGTGAATGCCAGTTCTGGCCTCCAAAGCGAGCCACCCCGACACCTCACACTCCTTCCCTCCTCTGTACTGATTTCACTCCATATCCATTGTGGCTAAAAGGCCTTGGATGAAAATTGTCCCCATTGCCAGCGTCCCCAGGAAACTTTGCCTGGCTTCAGAAGGCAAAGCAAGTTTCTGACTACATCTGTGGTGAGAAGCAGAAACTCCTTTGACCTCCCTCCTCTAAAAAGACTGCTGAAAGGATGGCTGAGGAAAATGAGCCCATGCTTCAAAGCTTGTTATCGATATGCTCAATTGATATTTACAAACTTCTTCTCTTTCCTCCCCCTTTCCAGTAGACATCAGAGTGCTGCTGTGGTTGCACCCAATACACCCTGCAGACTGCCTTGGGCTGCTTAACGGGACTTAAAGCACAGCAACAATGACCTGCTGAGGATGAAATGAACTTACCGGAGGCCCTGCGGGGCCTGGCTGACCATCGTTGCCTCGGGCACCCTGTGAGCAAGAAGGAAGTGACCATGAGAGGTGCCCACAGGCCCTGTCCGTCCCTGCTCCCAGCCCACCCTTACAGAAAACGAAGGACACACTGTGCCTGGGGTGTCCCAGGGCAGAGCACGAGGATGGCGAGGTGTGGGCTGCAGTTTTGGTGTCTGTGCGAGTGGGTGGCCAGAAGGCAGTAATGGGCTTCTTCTAATCTTTTTTTGTTGTTGTTTTTGAGACGGAGTCTGGCTCTGTCGCCAGGCTGGAGTGCAGTGGTGCGGTCTTGGCTCACTACAACCTCCACCTCTCAAGTTCAAGCAATTCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGCATGTGTCACCACACCTGGCTATTTTTTTTATTGTTATTTTTAGTAGAGACTGGGTTTTGCTATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGGCTCCCAAGGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCCCTAATCTTAAACAAAGCTTAAATCATTTTCTCTTTTCTTCAACTTCAGTTCAGACCCCAAATATCCGTAACTTCAAGGCCAAGTGATCATTTAAAGACTGAGAGAATTGAGTGTAAGGAAATGAAACAGCGAGGCAACCATGTGGACTCAGTGCTTCCTGCCTGCTCAGGGGGAAGCGCTTTCAAGGCTTGGTTAACCTCTGTGGTTAAGGCTTGGTTAAGGCCTCCTCTTGGTTGACTCCAGGTTGCCTCTTCCTCTGGCCCATCCCCAGACAGCCTGCTCTTACGGAAAACAAAGATGCCCATAGGATGTCTACCATTGGCTCCCTGATGGGGCAGGGCACCAGCCACAGCTCAAACACTACATCTGAGCTCAAGCCCTAAGAGGCTTTTGCTTACAAAGCAAGGCAAGGTTGCCAGCTCCTTCTCTAGGACTGGACTTGGAGGGGGAGGGTTTTTTCTGCCAAGTTTGTGGTGGCACCCCTCAAATGCTCTCTCAAGGTTCCTTAAGGCCCAGGGAACTCTTTACCGAAACTCTGGGGGCCACAGGCTGGGTGGAGCTGGGCCTAGGGCCTGACTGAGCAGGTCAGGGGGGTACCTTTTCCTGCTGAGTCCTGCCTGTCAGTCTCTGCCTCTCCTTAGAAGCTAAAGAAGGATGCTTTAGGGGGAGCTCGTGTTTTAAATACAACTCAACTCTTCTTCCTGGCTGGGGTCCATTTCTCCTAACGGAGACTCTCCAGATTGGCATTTAAGAGGAAAGCAAGAGAAAACTTAGAAAAAATGTCAGCAGGAACATAAAGCTTCAGGATTGGCCACAGCCCCTCTGGGCTGGCCTGGCTGCTTCGGGAAGCAGTTCCTTGGGGAGCTCTGGAGCACCCTCTCCCCAGGGGTCAGCCAGCAGGAGGGCCCAGCCTGGGCCTGAGTGAAAGGGAGCTGCCATGCTGCTCTGAGAGGCCAGAACTAGGCTGACATCTGCCACCTCT
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Task1_train_17490
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A mutation on Chromosome 12 affecting COL2A1 (collagen type II alpha 1 chain) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Spondyloepiphyseal dysplasia congenita
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TCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGCAGAGTCCCTGGGGAGGGCTGCTGACCTGGAGAGAGGGCAGAGCCTCCTCAGGTTTCTTCTCAGAACATTCCTGCTTCACTGTGGTAATTATTATTTTCAAAAGGTCAGCCCCCCTCACCTTCCGCTGTCCCTCTTCACAATGGGTCTCCTTCACCCGGCTCCGGGACCTCAGACACTGTCTGGTTGCCATGGAAACCCCCAGGAGGGGAAAAGCAACCTGATGCCAGTGACACATGGAGGCTCCTTATTCATTCCCAGGGACGTTCACACTGGAATCCTTCCTGGGCTGCGAGGCCTGTCCCTGAACTGGCTGGCCTCCCACTGGCCTCTAGTAATCCTCCAGAGAACTCCGTTAACATGGTTTGGAAGAGCCAGGCACCCCAAATAAAGCAGAAACCCAGAGGGGAGCAGGGGCTCCCTGCCTGTGCCCTTTTCCCTGCCCAGTTCCCTCCAGTGCCCGTCAGGGCCCCGAGCTTGCTCAGCTGTTGGGTCTCCCCTAGGTTTGCTTCCCTGTGCTGCCACTCCTGGCCTTCTGCCCCTGCCAGGCCTATGGTGTATCCCCGTCTTCTTCTCTGTCCACCTTTCCCCACTCCAAAGTTGTAACTGGATCTCCCACATTTTATCTTCTGTCTTACTTTCCCTCCAGGTGAGACTGCGAGTGTCTGGCTTTTTGCCCTGCCTGGATGGAGGGGCCAGTGGGTGGGGTGGTGGGGAGCTACTTCTCAGAAGGGAGCAGGTGGTTGTTGAGGGAGCAATGAGCAAGGGTTACGGGGAAAGGACAGCTTCTCGGCACCCAGAAGTTCCTGACTGGACAACAGGGCACGTACCTTGGCTCCAGGAGCACCAGGGAAGCCAGGACCACCAGCAGGACCGACAGGACCCTGGAGAGAGTAGGCGGATGAGAAGAGAGGTGAATGCCAGTTCTGGCCTCCAAAGCGAGCCACCCCGACACCTCACACTCCTTCCCTCCTCTGTACTGATTTCACTCCATATCCATTGTGGCTAAAAGGCCTTGGATGAAAATTGTCCCCATTGCCAGCGTCCCCAGGAAACTTTGCCTGGCTTCAGAAGGCAAAGCAAGTTTCTGACTACATCTGTGGTGAGAAGCAGAAACTCCTTTGACCTCCCTCCTCTAAAAAGACTGCTGAAAGGATGGCTGAGGAAAATGAGCCCATGCTTCAAAGCTTGTTATCGATATGCTCAATTGATATTTACAAACTTCTTCTCTTTCCTCCCCCTTTCCAGTAGACATCAGAGTGCTGCTGTGGTTGCACCCAATACACCCTGCAGACTGCCTTGGGCTGCTTAACGGGACTTAAAGCACAGCAACAATGACCTGCTGAGGATGAAATGAACTTACCGGAGGCCCTGCGGGGCCTGGCTGACCATCGTTGCCTCGGGCACCCTGTGAGCAAGAAGGAAGTGACCATGAGAGGTGCCCACAGGCCCTGTCCGTCCCTGCTCCCAGCCCACCCTTACAGAAAACGAAGGACACACTGTGCCTGGGGTGTCCCAGGGCAGAGCACGAGGATGGCGAGGTGTGGGCTGCAGTTTTGGTGTCTGTGCGAGTGGGTGGCCAGAAGGCAGTAATGGGCTTCTTCTAATCTTTTTTTGTTGTTGTTTTTGAGACGGAGTCTGGCTCTGTCGCCAGGCTGGAGTGCAGTGGTGCGGTCTTGGCTCACTACAACCTCCACCTCTCAAGTTCAAGCAATTCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGCATGTGTCACCACACCTGGCTATTTTTTTTATTGTTATTTTTAGTAGAGACTGGGTTTTGCTATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGGCTCCCAAGGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCCCTAATCTTAAACAAAGCTTAAATCATTTTCTCTTTTCTTCAACTTCAGTTCAGACCCCAAATATCCGTAACTTCAAGGCCAAGTGATCATTTAAAGACTGAGAGAATTGAGTGTAAGGAAATGAAACAGCGAGGCAACCATGTGGACTCAGTGCTTCCTGCCTGCTCAGGGGGAAGCGCTTTCAAGGCTTGGTTAACCTCTGTGGTTAAGGCTTGGTTAAGGCCTCCTCTTGGTTGACTCCAGGTTGCCTCTTCCTCTGGCCCATCCCCAGACAGCCTGCTCTTACGGAAAACAAAGATGCCCATAGGATGTCTACCATTGGCTCCCTGATGGGGCAGGGCACCAGCCACAGCTCAAACACTACATCTGAGCTCAAGCCCTAAGAGGCTTTTGCTTACAAAGCAAGGCAAGGTTGCCAGCTCCTTCTCTAGGACTGGACTTGGAGGGGGAGGGTTTTTTCTGCCAAGTTTGTGGTGGCACCCCTCAAATGCTCTCTCAAGGTTCCTTAAGGCCCAGGGAACTCTTTACCGAAACTCTGGGGGCCACAGGCTGGGTGGAGCTGGGCCTAGGGCCTGACTGAGCAGGTCAGGGGGGTACCTTTTCCTGCTGAGTCCTGCCTGTCAGTCTCTGCCTCTCCTTAGAAGCTAAAGAAGGATGCTTTAGGGGGAGCTCGTGTTTTAAATACAACTCAACTCTTCTTCCTGGCTGGGGTCCATTTCTCCTAACGGAGACTCTCCAGATTGGCATTTAAGAGGAAAGCAAGAGAAAACTTAGAAAAAATGTCAGCAGGAACATAAAGCTTCAGGATTGGCCACAGCCCCTCTGGGCTGGCCTGGCTGCTTCGGGAAGCAGTTCCTTGGGGAGCTCTGGAGCACCCTCTCCCCAGGGGTCAGCCAGCAGGAGGGCCCAGCCTGGGCCTGAGTGAAAGGGAGCTGCCATGCTGCTCTGAGAGGCCAGAACTAGGCTGACATCTGCCACCTCTCCCTGCAGCAAGTCTGGAGAGAGGATACAGGCCCAA
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TCTCCTGGGGTAGCAAAGTCCACGGGCAACACTCACAGCAGATCCTTTGGCTCCAGGAATTCCATCTGTTCCAGGGTTACCCTGAAAAGGGAGACATTGTCAAATAAGCAGCAAAGAATGAACCCCAACCACCTCCAGCCCTCCAGGATCCAGATCCAGGGACCTGGCATAGGTGCTGTCCATTTCAGGGACATTCCCACTATGTGTTTCAAGGGGAAGATGGGATAGAAGGGAATACATCTAGAGGTGGGGACAGGCATTGGGCCAGAATGAAGGTTTGGTGGTTGGAGCCCACAACTGTCAGAGCAAAGTACAGAGTCAAGAGTTCCAAAGCCACAGACCCCAGACCCCCCCAGGCCAAAGAGAAGCTGCACTTACGGAGGCACCAGCAGGCCCAGGGGACCCAGGAGTACCAGGTTCACCGCGAGGACCTTGAGCACCTTCAGGACCACGGGCACCAGTGGGGCCGGCTTCACCCTGGGAAGAGACAGGGAGGATGAAATGAAGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGCAGAGTCCCTGGGGAGGGCTGCTGACCTGGAGAGAGGGCAGAGCCTCCTCAGGTTTCTTCTCAGAACATTCCTGCTTCACTGTGGTAATTATTATTTTCAAAAGGTCAGCCCCCCTCACCTTCCGCTGTCCCTCTTCACAATGGGTCTCCTTCACCCGGCTCCGGGACCTCAGACACTGTCTGGTTGCCATGGAAACCCCCAGGAGGGGAAAAGCAACCTGATGCCAGTGACACATGGAGGCTCCTTATTCATTCCCAGGGACGTTCACACTGGAATCCTTCCTGGGCTGCGAGGCCTGTCCCTGAACTGGCTGGCCTCCCACTGGCCTCTAGTAATCCTCCAGAGAACTCCGTTAACATGGTTTGGAAGAGCCAGGCACCCCAAATAAAGCAGAAACCCAGAGGGGAGCAGGGGCTCCCTGCCTGTGCCCTTTTCCCTGCCCAGTTCCCTCCAGTGCCCGTCAGGGCCCCGAGCTTGCTCAGCTGTTGGGTCTCCCCTAGGTTTGCTTCCCTGTGCTGCCACTCCTGGCCTTCTGCCCCTGCCAGGCCTATGGTGTATCCCCGTCTTCTTCTCTGTCCACCTTTCCCCACTCCAAAGTTGTAACTGGATCTCCCACATTTTATCTTCTGTCTTACTTTCCCTCCAGGTGAGACTGCGAGTGTCTGGCTTTTTGCCCTGCCTGGATGGAGGGGCCAGTGGGTGGGGTGGTGGGGAGCTACTTCTCAGAAGGGAGCAGGTGGTTGTTGAGGGAGCAATGAGCAAGGGTTACGGGGAAAGGACAGCTTCTCGGCACCCAGAAGTTCCTGACTGGACAACAGGGCACGTACCTTGGCTCCAGGAGCACCAGGGAAGCCAGGACCACCAGCAGGACCGACAGGACTCTGGAGAGAGTAGGCGGATGAGAAGAGAGGTGAATGCCAGTTCTGGCCTCCAAAGCGAGCCACCCCGACACCTCACACTCCTTCCCTCCTCTGTACTGATTTCACTCCATATCCATTGTGGCTAAAAGGCCTTGGATGAAAATTGTCCCCATTGCCAGCGTCCCCAGGAAACTTTGCCTGGCTTCAGAAGGCAAAGCAAGTTTCTGACTACATCTGTGGTGAGAAGCAGAAACTCCTTTGACCTCCCTCCTCTAAAAAGACTGCTGAAAGGATGGCTGAGGAAAATGAGCCCATGCTTCAAAGCTTGTTATCGATATGCTCAATTGATATTTACAAACTTCTTCTCTTTCCTCCCCCTTTCCAGTAGACATCAGAGTGCTGCTGTGGTTGCACCCAATACACCCTGCAGACTGCCTTGGGCTGCTTAACGGGACTTAAAGCACAGCAACAATGACCTGCTGAGGATGAAATGAACTTACCGGAGGCCCTGCGGGGCCTGGCTGACCATCGTTGCCTCGGGCACCCTGTGAGCAAGAAGGAAGTGACCATGAGAGGTGCCCACAGGCCCTGTCCGTCCCTGCTCCCAGCCCACCCTTACAGAAAACGAAGGACACACTGTGCCTGGGGTGTCCCAGGGCAGAGCACGAGGATGGCGAGGTGTGGGCTGCAGTTTTGGTGTCTGTGCGAGTGGGTGGCCAGAAGGCAGTAATGGGCTTCTTCTAATCTTTTTTTGTTGTTGTTTTTGAGACGGAGTCTGGCTCTGTCGCCAGGCTGGAGTGCAGTGGTGCGGTCTTGGCTCACTACAACCTCCACCTCTCAAGTTCAAGCAATTCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGCATGTGTCACCACACCTGGCTATTTTTTTTATTGTTATTTTTAGTAGAGACTGGGTTTTGCTATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGGCTCCCAAGGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCCCTAATCTTAAACAAAGCTTAAATCATTTTCTCTTTTCTTCAACTTCAGTTCAGACCCCAAATATCCGTAACTTCAAGGCCAAGTGATCATTTAAAGACTGAGAGAATTGAGTGTAAGGAAATGAAACAGCGAGGCAACCATGTGGACTCAGTGCTTCCTGCCTGCTCAGGGGGAAGCGCTTTCAAGGCTTGGTTAACCTCTGTGGTTAAGGCTTGGTTAAGGCCTCCTCTTGGTTGACTCCAGGTTGCCTCTTCCTCTGGCCCATCCCCAGACAGCCTGCTCTTACGGAAAACAAAGATGCCCATAGGATGTCTACCATTGGCTCCCTGATGGGGCAGGGCACCAGCCACAGCTCAAACACTACATCTGAGCTCAAGCCCTAAGAGGCTTTTGCTTACAAAGCAAGGCAAGGTTGCCAGCTCCTTCTCTAGGACTGGACTTGGAGGGGGAGGGTTTTTTCTGCCAAGTTTGTGGTGGCACCCCTCAAATGCTCTCTCAAGGTTCCTTAAGGCCCAGGGAACTCTTTACCGAAACTCTGGGGGCCACAGGCTGGGTGGAGCTGGGCCTAGGGCCTGACTGAGCAGGTCAGGGGGGTACCTTTTCCTGCTGAGTCCTGCCTGTCAGTCTCTGCCTCTCCTTAGAAGCTAAAGAAGGATGCTTTAGGGGGAGCTCGTGTTTTAAATACAACTCAACTCTTCTTCCTGGCTGGGGTCCATTTCTCCTAACGGAGACTCTCCAGATTGGCATTTAAGAGGAAAGCAAGAGAAAACTTAGAAAAAATGTCAGCAGGAACATAAAGCTTCAGGATTGGCCACAGCCCCTCTGGGCTGGCCTGGCTGCTTCGGGAAGCAGTTCCTTGGGGAGCTCTGGAGCACCCTCTCCCCAGGGGTCAGCCAGCAGGAGGGCCCAGCCTGGGCCTGAGTGAAAGGGAGCTGCCATGCTGCTCTGAGAGGCCAGAACTAGGCTGACATCTGCCACCTCTCCCTGCAGCAAGTCTGGAGAGAGGATACAGGCCCAA
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Task1_train_17491
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The following genetic variant occurs in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; not provided
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AGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGCAGAGTCCCTGGGGAGGGCTGCTGACCTGGAGAGAGGGCAGAGCCTCCTCAGGTTTCTTCTCAGAACATTCCTGCTTCACTGTGGTAATTATTATTTTCAAAAGGTCAGCCCCCCTCACCTTCCGCTGTCCCTCTTCACAATGGGTCTCCTTCACCCGGCTCCGGGACCTCAGACACTGTCTGGTTGCCATGGAAACCCCCAGGAGGGGAAAAGCAACCTGATGCCAGTGACACATGGAGGCTCCTTATTCATTCCCAGGGACGTTCACACTGGAATCCTTCCTGGGCTGCGAGGCCTGTCCCTGAACTGGCTGGCCTCCCACTGGCCTCTAGTAATCCTCCAGAGAACTCCGTTAACATGGTTTGGAAGAGCCAGGCACCCCAAATAAAGCAGAAACCCAGAGGGGAGCAGGGGCTCCCTGCCTGTGCCCTTTTCCCTGCCCAGTTCCCTCCAGTGCCCGTCAGGGCCCCGAGCTTGCTCAGCTGTTGGGTCTCCCCTAGGTTTGCTTCCCTGTGCTGCCACTCCTGGCCTTCTGCCCCTGCCAGGCCTATGGTGTATCCCCGTCTTCTTCTCTGTCCACCTTTCCCCACTCCAAAGTTGTAACTGGATCTCCCACATTTTATCTTCTGTCTTACTTTCCCTCCAGGTGAGACTGCGAGTGTCTGGCTTTTTGCCCTGCCTGGATGGAGGGGCCAGTGGGTGGGGTGGTGGGGAGCTACTTCTCAGAAGGGAGCAGGTGGTTGTTGAGGGAGCAATGAGCAAGGGTTACGGGGAAAGGACAGCTTCTCGGCACCCAGAAGTTCCTGACTGGACAACAGGGCACGTACCTTGGCTCCAGGAGCACCAGGGAAGCCAGGACCACCAGCAGGACCGACAGGACCCTGGAGAGAGTAGGCGGATGAGAAGAGAGGTGAATGCCAGTTCTGGCCTCCAAAGCGAGCCACCCCGACACCTCACACTCCTTCCCTCCTCTGTACTGATTTCACTCCATATCCATTGTGGCTAAAAGGCCTTGGATGAAAATTGTCCCCATTGCCAGCGTCCCCAGGAAACTTTGCCTGGCTTCAGAAGGCAAAGCAAGTTTCTGACTACATCTGTGGTGAGAAGCAGAAACTCCTTTGACCTCCCTCCTCTAAAAAGACTGCTGAAAGGATGGCTGAGGAAAATGAGCCCATGCTTCAAAGCTTGTTATCGATATGCTCAATTGATATTTACAAACTTCTTCTCTTTCCTCCCCCTTTCCAGTAGACATCAGAGTGCTGCTGTGGTTGCACCCAATACACCCTGCAGACTGCCTTGGGCTGCTTAACGGGACTTAAAGCACAGCAACAATGACCTGCTGAGGATGAAATGAACTTACCGGAGGCCCTGCGGGGCCTGGCTGACCATCGTTGCCTCGGGCACCCTGTGAGCAAGAAGGAAGTGACCATGAGAGGTGCCCACAGGCCCTGTCCGTCCCTGCTCCCAGCCCACCCTTACAGAAAACGAAGGACACACTGTGCCTGGGGTGTCCCAGGGCAGAGCACGAGGATGGCGAGGTGTGGGCTGCAGTTTTGGTGTCTGTGCGAGTGGGTGGCCAGAAGGCAGTAATGGGCTTCTTCTAATCTTTTTTTGTTGTTGTTTTTGAGACGGAGTCTGGCTCTGTCGCCAGGCTGGAGTGCAGTGGTGCGGTCTTGGCTCACTACAACCTCCACCTCTCAAGTTCAAGCAATTCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGCATGTGTCACCACACCTGGCTATTTTTTTTATTGTTATTTTTAGTAGAGACTGGGTTTTGCTATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGGCTCCCAAGGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCCCTAATCTTAAACAAAGCTTAAATCATTTTCTCTTTTCTTCAACTTCAGTTCAGACCCCAAATATCCGTAACTTCAAGGCCAAGTGATCATTTAAAGACTGAGAGAATTGAGTGTAAGGAAATGAAACAGCGAGGCAACCATGTGGACTCAGTGCTTCCTGCCTGCTCAGGGGGAAGCGCTTTCAAGGCTTGGTTAACCTCTGTGGTTAAGGCTTGGTTAAGGCCTCCTCTTGGTTGACTCCAGGTTGCCTCTTCCTCTGGCCCATCCCCAGACAGCCTGCTCTTACGGAAAACAAAGATGCCCATAGGATGTCTACCATTGGCTCCCTGATGGGGCAGGGCACCAGCCACAGCTCAAACACTACATCTGAGCTCAAGCCCTAAGAGGCTTTTGCTTACAAAGCAAGGCAAGGTTGCCAGCTCCTTCTCTAGGACTGGACTTGGAGGGGGAGGGTTTTTTCTGCCAAGTTTGTGGTGGCACCCCTCAAATGCTCTCTCAAGGTTCCTTAAGGCCCAGGGAACTCTTTACCGAAACTCTGGGGGCCACAGGCTGGGTGGAGCTGGGCCTAGGGCCTGACTGAGCAGGTCAGGGGGGTACCTTTTCCTGCTGAGTCCTGCCTGTCAGTCTCTGCCTCTCCTTAGAAGCTAAAGAAGGATGCTTTAGGGGGAGCTCGTGTTTTAAATACAACTCAACTCTTCTTCCTGGCTGGGGTCCATTTCTCCTAACGGAGACTCTCCAGATTGGCATTTAAGAGGAAAGCAAGAGAAAACTTAGAAAAAATGTCAGCAGGAACATAAAGCTTCAGGATTGGCCACAGCCCCTCTGGGCTGGCCTGGCTGCTTCGGGAAGCAGTTCCTTGGGGAGCTCTGGAGCACCCTCTCCCCAGGGGTCAGCCAGCAGGAGGGCCCAGCCTGGGCCTGAGTGAAAGGGAGCTGCCATGCTGCTCTGAGAGGCCAGAACTAGGCTGACATCTGCCACCTCTCCCTGCAGCAAGTCTGGAGAGAGGATACAGGCCCAAGGGAGGGCACATGACCACAGCAGGCAGACACCAACCCAGCCCAGTCTCCAGGCCAGCCTTGACACTAGATCAGCACTTGGATCTCCATGAGCCTACCCCGTGTCTGGGGCCTGCACACCCCGGACACTGCACAGCCCCCTTCTGGAAGTCAAGGCTGAGAAGGCTGCTGGGATACCACAGAGCAGAGGCCTCGCAGAGCAGACTCCAGAGAGGAGTCTGATGGGAGGGGAGAGGGAGGAGTAGCAAAGAAGGGCTCAAAGGCAATGTTGTCAATCTTCTAAGCCAAATCCTACACACGCTGCCAGCCTAACTACCGTGCGGACAGGAACCAACAGAGAGAACCAAGAAGCAGGGCGGCTGTGCCCAGGAAGGAGGGAACAAGGACAGGAGATGGAGCTTGTCTTTAGCCCATGCAGACTAGGGCCACCGCAGCTCTGAGCCTCGCTAAAAGGCCACAAGCCAGCATCCTGCTAATCTGTAGAAACGGCAGTGTTTCTTGGCAGCC
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AGAAGAAGAGAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGCAGAGTCCCTGGGGAGGGCTGCTGACCTGGAGAGAGGGCAGAGCCTCCTCAGGTTTCTTCTCAGAACATTCCTGCTTCACTGTGGTAATTATTATTTTCAAAAGGTCAGCCCCCCTCACCTTCCGCTGTCCCTCTTCACAATGGGTCTCCTTCACCCGGCTCCGGGACCTCAGACACTGTCTGGTTGCCATGGAAACCCCCAGGAGGGGAAAAGCAACCTGATGCCAGTGACACATGGAGGCTCCTTATTCATTCCCAGGGACGTTCACACTGGAATCCTTCCTGGGCTGCGAGGCCTGTCCCTGAACTGGCTGGCCTCCCACTGGCCTCTAGTAATCCTCCAGAGAACTCCGTTAACATGGTTTGGAAGAGCCAGGCACCCCAAATAAAGCAGAAACCCAGAGGGGAGCAGGGGCTCCCTGCCTGTGCCCTTTTCCCTGCCCAGTTCCCTCCAGTGCCCGTCAGGGCCCCGAGCTTGCTCAGCTGTTGGGTCTCCCCTAGGTTTGCTTCCCTGTGCTGCCACTCCTGGCCTTCTGCCCCTGCCAGGCCTATGGTGTATCCCCGTCTTCTTCTCTGTCCACCTTTCCCCACTCCAAAGTTGTAACTGGATCTCCCACATTTTATCTTCTGTCTTACTTTCCCTCCAGGTGAGACTGCGAGTGTCTGGCTTTTTGCCCTGCCTGGATGGAGGGGCCAGTGGGTGGGGTGGTGGGGAGCTACTTCTCAGAAGGGAGCAGGTGGTTGTTGAGGGAGCAATGAGCAAGGGTTACGGGGAAAGGACAGCTTCTCGGCACCCAGAAGTTCCTGACTGGACAACAGGGCACGTACCTTGGCTCCAGGAGCACCAGGGAAGCCAGGACCACCAGCAGGACCGACAGGACCCTGGAGAGAGTAGGCGGATGAGAAGAGAGGTGAATGCCAGTTCTGGCCTCCAAAGCGAGCCACCCCGACACCTCACACTCCTTCCCTCCTCTGTACTGATTTCACTCCATATCCATTGTGGCTAAAAGGCCTTGGATGAAAATTGTCCCCATTGCCAGCGTCCCCAGGAAACTTTGCCTGGCTTCAGAAGGCAAAGCAAGTTTCTGACTACATCTGTGGTGAGAAGCAGAAACTCCTTTGACCTCCCTCCTCTAAAAAGACTGCTGAAAGGATGGCTGAGGAAAATGAGCCCATGCTTCAAAGCTTGTTATCGATATGCTCAATTGATATTTACAAACTTCTTCTCTTTCCTCCCCCTTTCCAGTAGACATCAGAGTGCTGCTGTGGTTGCACCCAATACACCCTGCAGACTGCCTTGGGCTGCTTAACGGGACTTAAAGCACAGCAACAATGACCTGCTGAGGATGAAATGAACTTACCGGAGGCCCTGCGGGGCCTGGCTGAACATCGTTGCCTCGGGCACCCTGTGAGCAAGAAGGAAGTGACCATGAGAGGTGCCCACAGGCCCTGTCCGTCCCTGCTCCCAGCCCACCCTTACAGAAAACGAAGGACACACTGTGCCTGGGGTGTCCCAGGGCAGAGCACGAGGATGGCGAGGTGTGGGCTGCAGTTTTGGTGTCTGTGCGAGTGGGTGGCCAGAAGGCAGTAATGGGCTTCTTCTAATCTTTTTTTGTTGTTGTTTTTGAGACGGAGTCTGGCTCTGTCGCCAGGCTGGAGTGCAGTGGTGCGGTCTTGGCTCACTACAACCTCCACCTCTCAAGTTCAAGCAATTCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGCATGTGTCACCACACCTGGCTATTTTTTTTATTGTTATTTTTAGTAGAGACTGGGTTTTGCTATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGGCTCCCAAGGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCCCTAATCTTAAACAAAGCTTAAATCATTTTCTCTTTTCTTCAACTTCAGTTCAGACCCCAAATATCCGTAACTTCAAGGCCAAGTGATCATTTAAAGACTGAGAGAATTGAGTGTAAGGAAATGAAACAGCGAGGCAACCATGTGGACTCAGTGCTTCCTGCCTGCTCAGGGGGAAGCGCTTTCAAGGCTTGGTTAACCTCTGTGGTTAAGGCTTGGTTAAGGCCTCCTCTTGGTTGACTCCAGGTTGCCTCTTCCTCTGGCCCATCCCCAGACAGCCTGCTCTTACGGAAAACAAAGATGCCCATAGGATGTCTACCATTGGCTCCCTGATGGGGCAGGGCACCAGCCACAGCTCAAACACTACATCTGAGCTCAAGCCCTAAGAGGCTTTTGCTTACAAAGCAAGGCAAGGTTGCCAGCTCCTTCTCTAGGACTGGACTTGGAGGGGGAGGGTTTTTTCTGCCAAGTTTGTGGTGGCACCCCTCAAATGCTCTCTCAAGGTTCCTTAAGGCCCAGGGAACTCTTTACCGAAACTCTGGGGGCCACAGGCTGGGTGGAGCTGGGCCTAGGGCCTGACTGAGCAGGTCAGGGGGGTACCTTTTCCTGCTGAGTCCTGCCTGTCAGTCTCTGCCTCTCCTTAGAAGCTAAAGAAGGATGCTTTAGGGGGAGCTCGTGTTTTAAATACAACTCAACTCTTCTTCCTGGCTGGGGTCCATTTCTCCTAACGGAGACTCTCCAGATTGGCATTTAAGAGGAAAGCAAGAGAAAACTTAGAAAAAATGTCAGCAGGAACATAAAGCTTCAGGATTGGCCACAGCCCCTCTGGGCTGGCCTGGCTGCTTCGGGAAGCAGTTCCTTGGGGAGCTCTGGAGCACCCTCTCCCCAGGGGTCAGCCAGCAGGAGGGCCCAGCCTGGGCCTGAGTGAAAGGGAGCTGCCATGCTGCTCTGAGAGGCCAGAACTAGGCTGACATCTGCCACCTCTCCCTGCAGCAAGTCTGGAGAGAGGATACAGGCCCAAGGGAGGGCACATGACCACAGCAGGCAGACACCAACCCAGCCCAGTCTCCAGGCCAGCCTTGACACTAGATCAGCACTTGGATCTCCATGAGCCTACCCCGTGTCTGGGGCCTGCACACCCCGGACACTGCACAGCCCCCTTCTGGAAGTCAAGGCTGAGAAGGCTGCTGGGATACCACAGAGCAGAGGCCTCGCAGAGCAGACTCCAGAGAGGAGTCTGATGGGAGGGGAGAGGGAGGAGTAGCAAAGAAGGGCTCAAAGGCAATGTTGTCAATCTTCTAAGCCAAATCCTACACACGCTGCCAGCCTAACTACCGTGCGGACAGGAACCAACAGAGAGAACCAAGAAGCAGGGCGGCTGTGCCCAGGAAGGAGGGAACAAGGACAGGAGATGGAGCTTGTCTTTAGCCCATGCAGACTAGGGCCACCGCAGCTCTGAGCCTCGCTAAAAGGCCACAAGCCAGCATCCTGCTAATCTGTAGAAACGGCAGTGTTTCTTGGCAGCC
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Task1_train_17492
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The gene COL2A1 (collagen type II alpha 1 chain), on Chromosome 12, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; not provided
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GAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGCAGAGTCCCTGGGGAGGGCTGCTGACCTGGAGAGAGGGCAGAGCCTCCTCAGGTTTCTTCTCAGAACATTCCTGCTTCACTGTGGTAATTATTATTTTCAAAAGGTCAGCCCCCCTCACCTTCCGCTGTCCCTCTTCACAATGGGTCTCCTTCACCCGGCTCCGGGACCTCAGACACTGTCTGGTTGCCATGGAAACCCCCAGGAGGGGAAAAGCAACCTGATGCCAGTGACACATGGAGGCTCCTTATTCATTCCCAGGGACGTTCACACTGGAATCCTTCCTGGGCTGCGAGGCCTGTCCCTGAACTGGCTGGCCTCCCACTGGCCTCTAGTAATCCTCCAGAGAACTCCGTTAACATGGTTTGGAAGAGCCAGGCACCCCAAATAAAGCAGAAACCCAGAGGGGAGCAGGGGCTCCCTGCCTGTGCCCTTTTCCCTGCCCAGTTCCCTCCAGTGCCCGTCAGGGCCCCGAGCTTGCTCAGCTGTTGGGTCTCCCCTAGGTTTGCTTCCCTGTGCTGCCACTCCTGGCCTTCTGCCCCTGCCAGGCCTATGGTGTATCCCCGTCTTCTTCTCTGTCCACCTTTCCCCACTCCAAAGTTGTAACTGGATCTCCCACATTTTATCTTCTGTCTTACTTTCCCTCCAGGTGAGACTGCGAGTGTCTGGCTTTTTGCCCTGCCTGGATGGAGGGGCCAGTGGGTGGGGTGGTGGGGAGCTACTTCTCAGAAGGGAGCAGGTGGTTGTTGAGGGAGCAATGAGCAAGGGTTACGGGGAAAGGACAGCTTCTCGGCACCCAGAAGTTCCTGACTGGACAACAGGGCACGTACCTTGGCTCCAGGAGCACCAGGGAAGCCAGGACCACCAGCAGGACCGACAGGACCCTGGAGAGAGTAGGCGGATGAGAAGAGAGGTGAATGCCAGTTCTGGCCTCCAAAGCGAGCCACCCCGACACCTCACACTCCTTCCCTCCTCTGTACTGATTTCACTCCATATCCATTGTGGCTAAAAGGCCTTGGATGAAAATTGTCCCCATTGCCAGCGTCCCCAGGAAACTTTGCCTGGCTTCAGAAGGCAAAGCAAGTTTCTGACTACATCTGTGGTGAGAAGCAGAAACTCCTTTGACCTCCCTCCTCTAAAAAGACTGCTGAAAGGATGGCTGAGGAAAATGAGCCCATGCTTCAAAGCTTGTTATCGATATGCTCAATTGATATTTACAAACTTCTTCTCTTTCCTCCCCCTTTCCAGTAGACATCAGAGTGCTGCTGTGGTTGCACCCAATACACCCTGCAGACTGCCTTGGGCTGCTTAACGGGACTTAAAGCACAGCAACAATGACCTGCTGAGGATGAAATGAACTTACCGGAGGCCCTGCGGGGCCTGGCTGACCATCGTTGCCTCGGGCACCCTGTGAGCAAGAAGGAAGTGACCATGAGAGGTGCCCACAGGCCCTGTCCGTCCCTGCTCCCAGCCCACCCTTACAGAAAACGAAGGACACACTGTGCCTGGGGTGTCCCAGGGCAGAGCACGAGGATGGCGAGGTGTGGGCTGCAGTTTTGGTGTCTGTGCGAGTGGGTGGCCAGAAGGCAGTAATGGGCTTCTTCTAATCTTTTTTTGTTGTTGTTTTTGAGACGGAGTCTGGCTCTGTCGCCAGGCTGGAGTGCAGTGGTGCGGTCTTGGCTCACTACAACCTCCACCTCTCAAGTTCAAGCAATTCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGCATGTGTCACCACACCTGGCTATTTTTTTTATTGTTATTTTTAGTAGAGACTGGGTTTTGCTATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGGCTCCCAAGGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCCCTAATCTTAAACAAAGCTTAAATCATTTTCTCTTTTCTTCAACTTCAGTTCAGACCCCAAATATCCGTAACTTCAAGGCCAAGTGATCATTTAAAGACTGAGAGAATTGAGTGTAAGGAAATGAAACAGCGAGGCAACCATGTGGACTCAGTGCTTCCTGCCTGCTCAGGGGGAAGCGCTTTCAAGGCTTGGTTAACCTCTGTGGTTAAGGCTTGGTTAAGGCCTCCTCTTGGTTGACTCCAGGTTGCCTCTTCCTCTGGCCCATCCCCAGACAGCCTGCTCTTACGGAAAACAAAGATGCCCATAGGATGTCTACCATTGGCTCCCTGATGGGGCAGGGCACCAGCCACAGCTCAAACACTACATCTGAGCTCAAGCCCTAAGAGGCTTTTGCTTACAAAGCAAGGCAAGGTTGCCAGCTCCTTCTCTAGGACTGGACTTGGAGGGGGAGGGTTTTTTCTGCCAAGTTTGTGGTGGCACCCCTCAAATGCTCTCTCAAGGTTCCTTAAGGCCCAGGGAACTCTTTACCGAAACTCTGGGGGCCACAGGCTGGGTGGAGCTGGGCCTAGGGCCTGACTGAGCAGGTCAGGGGGGTACCTTTTCCTGCTGAGTCCTGCCTGTCAGTCTCTGCCTCTCCTTAGAAGCTAAAGAAGGATGCTTTAGGGGGAGCTCGTGTTTTAAATACAACTCAACTCTTCTTCCTGGCTGGGGTCCATTTCTCCTAACGGAGACTCTCCAGATTGGCATTTAAGAGGAAAGCAAGAGAAAACTTAGAAAAAATGTCAGCAGGAACATAAAGCTTCAGGATTGGCCACAGCCCCTCTGGGCTGGCCTGGCTGCTTCGGGAAGCAGTTCCTTGGGGAGCTCTGGAGCACCCTCTCCCCAGGGGTCAGCCAGCAGGAGGGCCCAGCCTGGGCCTGAGTGAAAGGGAGCTGCCATGCTGCTCTGAGAGGCCAGAACTAGGCTGACATCTGCCACCTCTCCCTGCAGCAAGTCTGGAGAGAGGATACAGGCCCAAGGGAGGGCACATGACCACAGCAGGCAGACACCAACCCAGCCCAGTCTCCAGGCCAGCCTTGACACTAGATCAGCACTTGGATCTCCATGAGCCTACCCCGTGTCTGGGGCCTGCACACCCCGGACACTGCACAGCCCCCTTCTGGAAGTCAAGGCTGAGAAGGCTGCTGGGATACCACAGAGCAGAGGCCTCGCAGAGCAGACTCCAGAGAGGAGTCTGATGGGAGGGGAGAGGGAGGAGTAGCAAAGAAGGGCTCAAAGGCAATGTTGTCAATCTTCTAAGCCAAATCCTACACACGCTGCCAGCCTAACTACCGTGCGGACAGGAACCAACAGAGAGAACCAAGAAGCAGGGCGGCTGTGCCCAGGAAGGAGGGAACAAGGACAGGAGATGGAGCTTGTCTTTAGCCCATGCAGACTAGGGCCACCGCAGCTCTGAGCCTCGCTAAAAGGCCACAAGCCAGCATCCTGCTAATCTGTAGAAACGGCAGTGTTTCTTGGCAGCCCCAGTGCTC
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GAGGGGACACAGACCTCTAGTGGGTGGGCAATAGCTCAGGGCCAGCTGCAAGCACAGCACTAAATTATGCACATGCACCCAACCCTGCACATGAACATGTGCGTTCACACACAGTTCACGCTGCCGTTTTTCTCCCTGCCTGACCGAGCTGATGACTTGATGACTTCCCACGCCTGCCTCCTCTACTGCTTACCTCATCTCTACACAGTGAGCCTCCACATGCCACGGCACAGCTACATACTACAGCAATGGGCAACCTGCTGTTCCATCGACACCATCAGAAAAGCGTGGGCTGGGGACCCTGCCATCCTGGCACCGTGGGATGATGGACGGACACCGCTCTCTCCCCCACCTCCTGTTTTTCTATTTTATTGAGGAGCTGAGGTCCCTTCTAAGTCTCTGAACATCCCAGCTCAGAGCACCACCTCACTCCCATCTGGCTGACGGGTGAACAGTGACACCCTGGCTCCGGCCCCAGTCTGTTCTCAGTAAGCCAGAAAGCCAAGGCAAAAGCACATGGGGACTCTGCCCCTCCCTGCTCTCAATACAGCCCAATTCCCCTTAGCGGGCGCCTCTGGCAAGCCCCCTCCCCACAAAATGGCTTGTGCTTTTACTTTCATTTTTTCCTGAAAATTACAACCCACTCTAGATGGCAGAGTCCCTGGGGAGGGCTGCTGACCTGGAGAGAGGGCAGAGCCTCCTCAGGTTTCTTCTCAGAACATTCCTGCTTCACTGTGGTAATTATTATTTTCAAAAGGTCAGCCCCCCTCACCTTCCGCTGTCCCTCTTCACAATGGGTCTCCTTCACCCGGCTCCGGGACCTCAGACACTGTCTGGTTGCCATGGAAACCCCCAGGAGGGGAAAAGCAACCTGATGCCAGTGACACATGGAGGCTCCTTATTCATTCCCAGGGACGTTCACACTGGAATCCTTCCTGGGCTGCGAGGCCTGTCCCTGAACTGGCTGGCCTCCCACTGGCCTCTAGTAATCCTCCAGAGAACTCCGTTAACATGGTTTGGAAGAGCCAGGCACCCCAAATAAAGCAGAAACCCAGAGGGGAGCAGGGGCTCCCTGCCTGTGCCCTTTTCCCTGCCCAGTTCCCTCCAGTGCCCGTCAGGGCCCCGAGCTTGCTCAGCTGTTGGGTCTCCCCTAGGTTTGCTTCCCTGTGCTGCCACTCCTGGCCTTCTGCCCCTGCCAGGCCTATGGTGTATCCCCGTCTTCTTCTCTGTCCACCTTTCCCCACTCCAAAGTTGTAACTGGATCTCCCACATTTTATCTTCTGTCTTACTTTCCCTCCAGGTGAGACTGCGAGTGTCTGGCTTTTTGCCCTGCCTGGATGGAGGGGCCAGTGGGTGGGGTGGTGGGGAGCTACTTCTCAGAAGGGAGCAGGTGGTTGTTGAGGGAGCAATGAGCAAGGGTTACGGGGAAAGGACAGCTTCTCGGCACCCAGAAGTTCCTGACTGGACAACAGGGCACGTACCTTGGCTCCAGGAGCACCAGGGAAGCCAGGACCACCAGCAGGACCGACAGGACCCTGGAGAGAGTAGGCGGATGAGAAGAGAGGTGAATGCCAGTTCTGGCCTCCAAAGCGAGCCACCCCGACACCTCACACTCCTTCCCTCCTCTGTACTGATTTCACTCCATATCCATTGTGGCTAAAAGGCCTTGGATGAAAATTGTCCCCATTGCCAGCGTCCCCAGGAAACTTTGCCTGGCTTCAGAAGGCAAAGCAAGTTTCTGACTACATCTGTGGTGAGAAGCAGAAACTCCTTTGACCTCCCTCCTCTAAAAAGACTGCTGAAAGGATGGCTGAGGAAAATGAGCCCATGCTTCAAAGCTTGTTATCGATATGCTCAATTGATATTTACAAACTTCTTCTCTTTCCTCCCCCTTTCCAGTAGACATCAGAGTGCTGCTGTGGTTGCACCCAATACACCCTGCAGACTGCCTTGGGCTGCTTAACGGGACTTAAAGCACAGCAACAATGACCTGCTGAGGATGAAATGAACTTACCGGAGGCCCTGCGGGGCCTGGCTGACCATCGTTGTCTCGGGCACCCTGTGAGCAAGAAGGAAGTGACCATGAGAGGTGCCCACAGGCCCTGTCCGTCCCTGCTCCCAGCCCACCCTTACAGAAAACGAAGGACACACTGTGCCTGGGGTGTCCCAGGGCAGAGCACGAGGATGGCGAGGTGTGGGCTGCAGTTTTGGTGTCTGTGCGAGTGGGTGGCCAGAAGGCAGTAATGGGCTTCTTCTAATCTTTTTTTGTTGTTGTTTTTGAGACGGAGTCTGGCTCTGTCGCCAGGCTGGAGTGCAGTGGTGCGGTCTTGGCTCACTACAACCTCCACCTCTCAAGTTCAAGCAATTCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGCATGTGTCACCACACCTGGCTATTTTTTTTATTGTTATTTTTAGTAGAGACTGGGTTTTGCTATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGGCTCCCAAGGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCCCTAATCTTAAACAAAGCTTAAATCATTTTCTCTTTTCTTCAACTTCAGTTCAGACCCCAAATATCCGTAACTTCAAGGCCAAGTGATCATTTAAAGACTGAGAGAATTGAGTGTAAGGAAATGAAACAGCGAGGCAACCATGTGGACTCAGTGCTTCCTGCCTGCTCAGGGGGAAGCGCTTTCAAGGCTTGGTTAACCTCTGTGGTTAAGGCTTGGTTAAGGCCTCCTCTTGGTTGACTCCAGGTTGCCTCTTCCTCTGGCCCATCCCCAGACAGCCTGCTCTTACGGAAAACAAAGATGCCCATAGGATGTCTACCATTGGCTCCCTGATGGGGCAGGGCACCAGCCACAGCTCAAACACTACATCTGAGCTCAAGCCCTAAGAGGCTTTTGCTTACAAAGCAAGGCAAGGTTGCCAGCTCCTTCTCTAGGACTGGACTTGGAGGGGGAGGGTTTTTTCTGCCAAGTTTGTGGTGGCACCCCTCAAATGCTCTCTCAAGGTTCCTTAAGGCCCAGGGAACTCTTTACCGAAACTCTGGGGGCCACAGGCTGGGTGGAGCTGGGCCTAGGGCCTGACTGAGCAGGTCAGGGGGGTACCTTTTCCTGCTGAGTCCTGCCTGTCAGTCTCTGCCTCTCCTTAGAAGCTAAAGAAGGATGCTTTAGGGGGAGCTCGTGTTTTAAATACAACTCAACTCTTCTTCCTGGCTGGGGTCCATTTCTCCTAACGGAGACTCTCCAGATTGGCATTTAAGAGGAAAGCAAGAGAAAACTTAGAAAAAATGTCAGCAGGAACATAAAGCTTCAGGATTGGCCACAGCCCCTCTGGGCTGGCCTGGCTGCTTCGGGAAGCAGTTCCTTGGGGAGCTCTGGAGCACCCTCTCCCCAGGGGTCAGCCAGCAGGAGGGCCCAGCCTGGGCCTGAGTGAAAGGGAGCTGCCATGCTGCTCTGAGAGGCCAGAACTAGGCTGACATCTGCCACCTCTCCCTGCAGCAAGTCTGGAGAGAGGATACAGGCCCAAGGGAGGGCACATGACCACAGCAGGCAGACACCAACCCAGCCCAGTCTCCAGGCCAGCCTTGACACTAGATCAGCACTTGGATCTCCATGAGCCTACCCCGTGTCTGGGGCCTGCACACCCCGGACACTGCACAGCCCCCTTCTGGAAGTCAAGGCTGAGAAGGCTGCTGGGATACCACAGAGCAGAGGCCTCGCAGAGCAGACTCCAGAGAGGAGTCTGATGGGAGGGGAGAGGGAGGAGTAGCAAAGAAGGGCTCAAAGGCAATGTTGTCAATCTTCTAAGCCAAATCCTACACACGCTGCCAGCCTAACTACCGTGCGGACAGGAACCAACAGAGAGAACCAAGAAGCAGGGCGGCTGTGCCCAGGAAGGAGGGAACAAGGACAGGAGATGGAGCTTGTCTTTAGCCCATGCAGACTAGGGCCACCGCAGCTCTGAGCCTCGCTAAAAGGCCACAAGCCAGCATCCTGCTAATCTGTAGAAACGGCAGTGTTTCTTGGCAGCCCCAGTGCTC
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Task1_train_17493
|
This is a variant in COL2A1 (collagen type II alpha 1 chain), located on Chromosome 12. Is this mutation a likely cause of disease or not?
|
Pathogenic; not provided
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CTGGGGGCCACAGGCTGGGTGGAGCTGGGCCTAGGGCCTGACTGAGCAGGTCAGGGGGGTACCTTTTCCTGCTGAGTCCTGCCTGTCAGTCTCTGCCTCTCCTTAGAAGCTAAAGAAGGATGCTTTAGGGGGAGCTCGTGTTTTAAATACAACTCAACTCTTCTTCCTGGCTGGGGTCCATTTCTCCTAACGGAGACTCTCCAGATTGGCATTTAAGAGGAAAGCAAGAGAAAACTTAGAAAAAATGTCAGCAGGAACATAAAGCTTCAGGATTGGCCACAGCCCCTCTGGGCTGGCCTGGCTGCTTCGGGAAGCAGTTCCTTGGGGAGCTCTGGAGCACCCTCTCCCCAGGGGTCAGCCAGCAGGAGGGCCCAGCCTGGGCCTGAGTGAAAGGGAGCTGCCATGCTGCTCTGAGAGGCCAGAACTAGGCTGACATCTGCCACCTCTCCCTGCAGCAAGTCTGGAGAGAGGATACAGGCCCAAGGGAGGGCACATGACCACAGCAGGCAGACACCAACCCAGCCCAGTCTCCAGGCCAGCCTTGACACTAGATCAGCACTTGGATCTCCATGAGCCTACCCCGTGTCTGGGGCCTGCACACCCCGGACACTGCACAGCCCCCTTCTGGAAGTCAAGGCTGAGAAGGCTGCTGGGATACCACAGAGCAGAGGCCTCGCAGAGCAGACTCCAGAGAGGAGTCTGATGGGAGGGGAGAGGGAGGAGTAGCAAAGAAGGGCTCAAAGGCAATGTTGTCAATCTTCTAAGCCAAATCCTACACACGCTGCCAGCCTAACTACCGTGCGGACAGGAACCAACAGAGAGAACCAAGAAGCAGGGCGGCTGTGCCCAGGAAGGAGGGAACAAGGACAGGAGATGGAGCTTGTCTTTAGCCCATGCAGACTAGGGCCACCGCAGCTCTGAGCCTCGCTAAAAGGCCACAAGCCAGCATCCTGCTAATCTGTAGAAACGGCAGTGTTTCTTGGCAGCCCCAGTGCTCTCTAATCCCCTCACACAAAGTGACCCTGGGGCAAGGCACTTCAGCAGCTCTGGCTGACAAAGGGGGGTCGAGGCTTCTGCTTATTTCACTGATCTGCCTTTGAGGGAAACTTCTGCCAAACAGACACATTAGCTGGAAAGCAGCACAACGGAGTGAAGCTGCTTTATTTTGGCCAGCCCTGCAAGGACCTGTGAGGAGGGGCCTCAGAGCTTGGGTGTTGGGGGTATGAAATCAGCAGAAAGCATAATCTTTCTTAAACACAGCTTTCATCGCATCACTCGCCTGACCAAGTGCCTACAAGGACTCTCTATTGCTAAGGAATCAGAGCTAAACGCCTCTGTCTGGCACCCTGCACCCTCCATCAGCTGCCAATCCCCTCACCCTTAATTTCCCACATTAACTAGAGGCCACCAGAGTCTAAGGCTGCAAGGCACTATTTATCTTAAGCTATTTCACCTTTCTGTGTCTCGGTTTTTTCATCCGTAAAATGGGGAGAAGAATAGAACCACCTCTCAGGATATGGAGGAAGATGAGATGAAGTAAAGCATATAGGGTATTAAACACAGGAAGTGCCTATGGAATGGTGGCCCCTGGTACTATAGCATAACATCCCTCACAGCAGCAGCCAGCATAGAGCCCTGTGAGTTGATGCTCACCTGTTCCACTTTTCTAGGGCATTTGAGCAACCAGGAAGAACAGAGAGTAGCACGGTGGTGCTATAGCCAGCTAAGTCTGTCTGTAAACTCCAGCTGGATTGCCCAGGGAGTGGGTGGTGGTTGTTGAAGGGATTACCTGATAATCTGGACTGGTTAAGAGAATCATGCTTTCACCCATCGACCCTCCCATTCCTATCCTTCCTCCTTCAACTGTGCAGACTCAGCCTGGGAAGTTTTGATGGGCACACTGGGGGTGAATTCTTAAGGGATAACAATACTCCCTATGCCTCACAGGGTTGTTTCGAGGGTCAAGAGAAACAAACCTGTAAACTCTAAAGTGCTCGGCAAATGGTGGTGTTTGGCTTTGTCAATTACTCACCGCAGCGCCAGCAGGGCCAGTCCGTCCTCTTTCACCAGGCAGGCCACGAGGACCCTGGAACACACACCAGGACAGCCTAAGCATGAGTTGGCTTTACGGTGCTCAGGGTGACCATTTCTACCTGCAGGCCCTTTGCGGATACCAGAGGAGAGGGAGGATGCCCACACCCAGGAAAACAAGGACCTCCTGATGGTGCTGGCTCCTTGACTAGCCAGGATGCCTCAGATCACACCCAACAGTTTTCTCCACAGGCGGAACACACGAATGTTCCTGTTGCTACCTATTGGGAACCTTTGTTACAAGCACACCTTGCTCCTTGCAGTAGATGAGCTTGACAAAATGTTGAGACTCAACAGAATTTTTTTAAATGGGAGCATCTTTAGTGTGATAAAATGGGTATCTTAAGGAAATGTTGGTGAAATCTTGAACAAATCATCTGTCTAATACATTTTGCTTTTTGCTCACAATCAGATGAAATCTACAACACAGAATATGAACTTTGCACAAAGGGAGCTCTTTGCAGCCATCTGATAGTCTGAAGAGTCTTTGATAAACCTTCCTGGAGGGTGTCCATACTTACCATTGGGCCCGGAGATCCGTTCTCACCCGGGGAACCACTCTCACCCTGGAAAAATGATGCACAAGGTCAGTGTCTGGGACCCCATTCTTGGCCGCCAGCAAACTCCTAGGGAAGACGCCAAAAGCCCTGGTCATCTCAGCTCGCACTGACACAAACTTCAGTCCTGTGAGGGACAATGCCCTGAGCTCTCCAGGCCTGCTGTTGGCCCATCAGGATGTAGGGCTGGTGTTCCCAGCCAAGGCTGTTCTGAGGAGCTAGTTCCACTGAGCTCCACAGTGTCTCCCTGGCTAGGAAGAGGGGCTCCTCATTGTCTCCCTCCTCCCCATCCCATTGTACTTTCTGGCCTCTCACCTTCACACCAGGAGCACCCGCCTCTCCCTTAGCACCGTCCAGGCCTGGATAACCCTAGGGAACAAGAGAAAATGTTCAATCAGACTTCTGGGAAACCCAAGTTGGAAGAAATGCACGCACCCCAAAGTGCTTTTCTCTCCCACCAGGCATCTCTTCCTTCCAACCTTCTCACCCGTGATACTTACTCTGTGACCTTTGACACCAGGAAGGCCTGGGGTTCCTGGGAAACCACGAGCACCCTGCAATCCAAAGTGGAGGTGTTCAGAGCACAGAGTAAAATAACAGTGGAAAGCTGCCCTGGGCTGCAGGAGGGCCTCCAGTTCCCTTGGGCCACCAGGGCGTTGTCTCGAATCCCCACACTTGGACAGCTCTTTCTGTAAAACCCAGACCACCCCTCCCCGTACCCCCCATTTTATGCAAAGTGGTATAAATAACAACTGCCCAGCCTCCCTCATGAGAGCCTGAGTGGAAATTACAAACATGGTCGTGATAAATATAGGGGCTACTGGCGTTTCATCTCAGAAGTGACCTCATTGAACTGGATGCACTGTGTTTAAGGCCACAGGGAGGGAGACGCTAGGAAAGATGCCTGAGGCTGGGAACGGTGGCGTTTACCTGAGGACCAGGCGGACCCCTTTCACCAGCTTTTCCAGGTTTTCCAGCTTCACCCTGAAGGGAGAGAGAGAGATATCCCAGCTTCCTCAGAGACGCAGTAGCATAGTGGGGGCACCCCAGAGGGCTTCCCTCCTTCCAGCCCTCCATGCCTTTGCCTACCGGCTCACTCATCTCCCTCACCTCCTTCAGACTCCACGTGCCTGGATGCCTTTCATGGGTCACCATTTATTCTTTTGGACACATGCATAGCCCATGGGCAAGCTCCTCTGTCCTCACCAGCCTCCAACTTCCCCTGAGAGGCTTTTTCTCTCCTCTCCTAGGTTCTGCTGACTGTATGTGCTCTCTCTAACCTCAAGAGACTTTTACTGTCTAATGCAATTCATAAAAATAGCACAAGAGTGCCAATTCTTGTCTCTTCATTTCGTTTGCATCCTTTGTAGACATCCTGACTCAGGCTGTGCTTTTTCTAACTCATTTACAATTAAGATAATGCTGGGTTGTTGAACGCTTCTTTCTTT
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CTGGGGGCCACAGGCTGGGTGGAGCTGGGCCTAGGGCCTGACTGAGCAGGTCAGGGGGGTACCTTTTCCTGCTGAGTCCTGCCTGTCAGTCTCTGCCTCTCCTTAGAAGCTAAAGAAGGATGCTTTAGGGGGAGCTCGTGTTTTAAATACAACTCAACTCTTCTTCCTGGCTGGGGTCCATTTCTCCTAACGGAGACTCTCCAGATTGGCATTTAAGAGGAAAGCAAGAGAAAACTTAGAAAAAATGTCAGCAGGAACATAAAGCTTCAGGATTGGCCACAGCCCCTCTGGGCTGGCCTGGCTGCTTCGGGAAGCAGTTCCTTGGGGAGCTCTGGAGCACCCTCTCCCCAGGGGTCAGCCAGCAGGAGGGCCCAGCCTGGGCCTGAGTGAAAGGGAGCTGCCATGCTGCTCTGAGAGGCCAGAACTAGGCTGACATCTGCCACCTCTCCCTGCAGCAAGTCTGGAGAGAGGATACAGGCCCAAGGGAGGGCACATGACCACAGCAGGCAGACACCAACCCAGCCCAGTCTCCAGGCCAGCCTTGACACTAGATCAGCACTTGGATCTCCATGAGCCTACCCCGTGTCTGGGGCCTGCACACCCCGGACACTGCACAGCCCCCTTCTGGAAGTCAAGGCTGAGAAGGCTGCTGGGATACCACAGAGCAGAGGCCTCGCAGAGCAGACTCCAGAGAGGAGTCTGATGGGAGGGGAGAGGGAGGAGTAGCAAAGAAGGGCTCAAAGGCAATGTTGTCAATCTTCTAAGCCAAATCCTACACACGCTGCCAGCCTAACTACCGTGCGGACAGGAACCAACAGAGAGAACCAAGAAGCAGGGCGGCTGTGCCCAGGAAGGAGGGAACAAGGACAGGAGATGGAGCTTGTCTTTAGCCCATGCAGACTAGGGCCACCGCAGCTCTGAGCCTCGCTAAAAGGCCACAAGCCAGCATCCTGCTAATCTGTAGAAACGGCAGTGTTTCTTGGCAGCCCCAGTGCTCTCTAATCCCCTCACACAAAGTGACCCTGGGGCAAGGCACTTCAGCAGCTCTGGCTGACAAAGGGGGGTCGAGGCTTCTGCTTATTTCACTGATCTGCCTTTGAGGGAAACTTCTGCCAAACAGACACATTAGCTGGAAAGCAGCACAACGGAGTGAAGCTGCTTTATTTTGGCCAGCCCTGCAAGGACCTGTGAGGAGGGGCCTCAGAGCTTGGGTGTTGGGGGTATGAAATCAGCAGAAAGCATAATCTTTCTTAAACACAGCTTTCATCGCATCACTCGCCTGACCAAGTGCCTACAAGGACTCTCTATTGCTAAGGAATCAGAGCTAAACGCCTCTGTCTGGCACCCTGCACCCTCCATCAGCTGCCAATCCCCTCACCCTTAATTTCCCACATTAACTAGAGGCCACCAGAGTCTAAGGCTGCAAGGCACTATTTATCTTAAGCTATTTCACCTTTCTGTGTCTCGGTTTTTTCATCCGTAAAATGGGGAGAAGAATAGAACCACCTCTCAGGATATGGAGGAAGATGAGATGAAGTAAAGCATATAGGGTATTAAACACAGGAAGTGCCTATGGAATGGTGGCCCCTGGTACTATAGCATAACATCCCTCACAGCAGCAGCCAGCATAGAGCCCTGTGAGTTGATGCTCACCTGTTCCACTTTTCTAGGGCATTTGAGCAACCAGGAAGAACAGAGAGTAGCACGGTGGTGCTATAGCCAGCTAAGTCTGTCTGTAAACTCCAGCTGGATTGCCCAGGGAGTGGGTGGTGGTTGTTGAAGGGATTACCTGATAATCTGGACTGGTTAAGAGAATCATGCTTTCACCCATCGACCCTCCCATTCCTATCCTTCCTCCTTCAACTGTGCAGACTCAGCCTGGGAAGTTTTGATGGGCACACTGGGGGTGAATTCTTAAGGGATAACAATACTCCCTATGCCTCACAGGGTTGTTTCGAGGGTCAAGAGAAACAAACCTGTAAACTCTAAAGTGCTCGGCAAATGGTGGTGTTTGGCTTTGTCAATTACTCACCGCAGCGCCAGCAGGGTCAGTCCGTCCTCTTTCACCAGGCAGGCCACGAGGACCCTGGAACACACACCAGGACAGCCTAAGCATGAGTTGGCTTTACGGTGCTCAGGGTGACCATTTCTACCTGCAGGCCCTTTGCGGATACCAGAGGAGAGGGAGGATGCCCACACCCAGGAAAACAAGGACCTCCTGATGGTGCTGGCTCCTTGACTAGCCAGGATGCCTCAGATCACACCCAACAGTTTTCTCCACAGGCGGAACACACGAATGTTCCTGTTGCTACCTATTGGGAACCTTTGTTACAAGCACACCTTGCTCCTTGCAGTAGATGAGCTTGACAAAATGTTGAGACTCAACAGAATTTTTTTAAATGGGAGCATCTTTAGTGTGATAAAATGGGTATCTTAAGGAAATGTTGGTGAAATCTTGAACAAATCATCTGTCTAATACATTTTGCTTTTTGCTCACAATCAGATGAAATCTACAACACAGAATATGAACTTTGCACAAAGGGAGCTCTTTGCAGCCATCTGATAGTCTGAAGAGTCTTTGATAAACCTTCCTGGAGGGTGTCCATACTTACCATTGGGCCCGGAGATCCGTTCTCACCCGGGGAACCACTCTCACCCTGGAAAAATGATGCACAAGGTCAGTGTCTGGGACCCCATTCTTGGCCGCCAGCAAACTCCTAGGGAAGACGCCAAAAGCCCTGGTCATCTCAGCTCGCACTGACACAAACTTCAGTCCTGTGAGGGACAATGCCCTGAGCTCTCCAGGCCTGCTGTTGGCCCATCAGGATGTAGGGCTGGTGTTCCCAGCCAAGGCTGTTCTGAGGAGCTAGTTCCACTGAGCTCCACAGTGTCTCCCTGGCTAGGAAGAGGGGCTCCTCATTGTCTCCCTCCTCCCCATCCCATTGTACTTTCTGGCCTCTCACCTTCACACCAGGAGCACCCGCCTCTCCCTTAGCACCGTCCAGGCCTGGATAACCCTAGGGAACAAGAGAAAATGTTCAATCAGACTTCTGGGAAACCCAAGTTGGAAGAAATGCACGCACCCCAAAGTGCTTTTCTCTCCCACCAGGCATCTCTTCCTTCCAACCTTCTCACCCGTGATACTTACTCTGTGACCTTTGACACCAGGAAGGCCTGGGGTTCCTGGGAAACCACGAGCACCCTGCAATCCAAAGTGGAGGTGTTCAGAGCACAGAGTAAAATAACAGTGGAAAGCTGCCCTGGGCTGCAGGAGGGCCTCCAGTTCCCTTGGGCCACCAGGGCGTTGTCTCGAATCCCCACACTTGGACAGCTCTTTCTGTAAAACCCAGACCACCCCTCCCCGTACCCCCCATTTTATGCAAAGTGGTATAAATAACAACTGCCCAGCCTCCCTCATGAGAGCCTGAGTGGAAATTACAAACATGGTCGTGATAAATATAGGGGCTACTGGCGTTTCATCTCAGAAGTGACCTCATTGAACTGGATGCACTGTGTTTAAGGCCACAGGGAGGGAGACGCTAGGAAAGATGCCTGAGGCTGGGAACGGTGGCGTTTACCTGAGGACCAGGCGGACCCCTTTCACCAGCTTTTCCAGGTTTTCCAGCTTCACCCTGAAGGGAGAGAGAGAGATATCCCAGCTTCCTCAGAGACGCAGTAGCATAGTGGGGGCACCCCAGAGGGCTTCCCTCCTTCCAGCCCTCCATGCCTTTGCCTACCGGCTCACTCATCTCCCTCACCTCCTTCAGACTCCACGTGCCTGGATGCCTTTCATGGGTCACCATTTATTCTTTTGGACACATGCATAGCCCATGGGCAAGCTCCTCTGTCCTCACCAGCCTCCAACTTCCCCTGAGAGGCTTTTTCTCTCCTCTCCTAGGTTCTGCTGACTGTATGTGCTCTCTCTAACCTCAAGAGACTTTTACTGTCTAATGCAATTCATAAAAATAGCACAAGAGTGCCAATTCTTGTCTCTTCATTTCGTTTGCATCCTTTGTAGACATCCTGACTCAGGCTGTGCTTTTTCTAACTCATTTACAATTAAGATAATGCTGGGTTGTTGAACGCTTCTTTCTTT
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Task1_train_17494
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This variant impacts the gene COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Spondyloepiphyseal dysplasia congenita
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GGCCTAGGGCCTGACTGAGCAGGTCAGGGGGGTACCTTTTCCTGCTGAGTCCTGCCTGTCAGTCTCTGCCTCTCCTTAGAAGCTAAAGAAGGATGCTTTAGGGGGAGCTCGTGTTTTAAATACAACTCAACTCTTCTTCCTGGCTGGGGTCCATTTCTCCTAACGGAGACTCTCCAGATTGGCATTTAAGAGGAAAGCAAGAGAAAACTTAGAAAAAATGTCAGCAGGAACATAAAGCTTCAGGATTGGCCACAGCCCCTCTGGGCTGGCCTGGCTGCTTCGGGAAGCAGTTCCTTGGGGAGCTCTGGAGCACCCTCTCCCCAGGGGTCAGCCAGCAGGAGGGCCCAGCCTGGGCCTGAGTGAAAGGGAGCTGCCATGCTGCTCTGAGAGGCCAGAACTAGGCTGACATCTGCCACCTCTCCCTGCAGCAAGTCTGGAGAGAGGATACAGGCCCAAGGGAGGGCACATGACCACAGCAGGCAGACACCAACCCAGCCCAGTCTCCAGGCCAGCCTTGACACTAGATCAGCACTTGGATCTCCATGAGCCTACCCCGTGTCTGGGGCCTGCACACCCCGGACACTGCACAGCCCCCTTCTGGAAGTCAAGGCTGAGAAGGCTGCTGGGATACCACAGAGCAGAGGCCTCGCAGAGCAGACTCCAGAGAGGAGTCTGATGGGAGGGGAGAGGGAGGAGTAGCAAAGAAGGGCTCAAAGGCAATGTTGTCAATCTTCTAAGCCAAATCCTACACACGCTGCCAGCCTAACTACCGTGCGGACAGGAACCAACAGAGAGAACCAAGAAGCAGGGCGGCTGTGCCCAGGAAGGAGGGAACAAGGACAGGAGATGGAGCTTGTCTTTAGCCCATGCAGACTAGGGCCACCGCAGCTCTGAGCCTCGCTAAAAGGCCACAAGCCAGCATCCTGCTAATCTGTAGAAACGGCAGTGTTTCTTGGCAGCCCCAGTGCTCTCTAATCCCCTCACACAAAGTGACCCTGGGGCAAGGCACTTCAGCAGCTCTGGCTGACAAAGGGGGGTCGAGGCTTCTGCTTATTTCACTGATCTGCCTTTGAGGGAAACTTCTGCCAAACAGACACATTAGCTGGAAAGCAGCACAACGGAGTGAAGCTGCTTTATTTTGGCCAGCCCTGCAAGGACCTGTGAGGAGGGGCCTCAGAGCTTGGGTGTTGGGGGTATGAAATCAGCAGAAAGCATAATCTTTCTTAAACACAGCTTTCATCGCATCACTCGCCTGACCAAGTGCCTACAAGGACTCTCTATTGCTAAGGAATCAGAGCTAAACGCCTCTGTCTGGCACCCTGCACCCTCCATCAGCTGCCAATCCCCTCACCCTTAATTTCCCACATTAACTAGAGGCCACCAGAGTCTAAGGCTGCAAGGCACTATTTATCTTAAGCTATTTCACCTTTCTGTGTCTCGGTTTTTTCATCCGTAAAATGGGGAGAAGAATAGAACCACCTCTCAGGATATGGAGGAAGATGAGATGAAGTAAAGCATATAGGGTATTAAACACAGGAAGTGCCTATGGAATGGTGGCCCCTGGTACTATAGCATAACATCCCTCACAGCAGCAGCCAGCATAGAGCCCTGTGAGTTGATGCTCACCTGTTCCACTTTTCTAGGGCATTTGAGCAACCAGGAAGAACAGAGAGTAGCACGGTGGTGCTATAGCCAGCTAAGTCTGTCTGTAAACTCCAGCTGGATTGCCCAGGGAGTGGGTGGTGGTTGTTGAAGGGATTACCTGATAATCTGGACTGGTTAAGAGAATCATGCTTTCACCCATCGACCCTCCCATTCCTATCCTTCCTCCTTCAACTGTGCAGACTCAGCCTGGGAAGTTTTGATGGGCACACTGGGGGTGAATTCTTAAGGGATAACAATACTCCCTATGCCTCACAGGGTTGTTTCGAGGGTCAAGAGAAACAAACCTGTAAACTCTAAAGTGCTCGGCAAATGGTGGTGTTTGGCTTTGTCAATTACTCACCGCAGCGCCAGCAGGGCCAGTCCGTCCTCTTTCACCAGGCAGGCCACGAGGACCCTGGAACACACACCAGGACAGCCTAAGCATGAGTTGGCTTTACGGTGCTCAGGGTGACCATTTCTACCTGCAGGCCCTTTGCGGATACCAGAGGAGAGGGAGGATGCCCACACCCAGGAAAACAAGGACCTCCTGATGGTGCTGGCTCCTTGACTAGCCAGGATGCCTCAGATCACACCCAACAGTTTTCTCCACAGGCGGAACACACGAATGTTCCTGTTGCTACCTATTGGGAACCTTTGTTACAAGCACACCTTGCTCCTTGCAGTAGATGAGCTTGACAAAATGTTGAGACTCAACAGAATTTTTTTAAATGGGAGCATCTTTAGTGTGATAAAATGGGTATCTTAAGGAAATGTTGGTGAAATCTTGAACAAATCATCTGTCTAATACATTTTGCTTTTTGCTCACAATCAGATGAAATCTACAACACAGAATATGAACTTTGCACAAAGGGAGCTCTTTGCAGCCATCTGATAGTCTGAAGAGTCTTTGATAAACCTTCCTGGAGGGTGTCCATACTTACCATTGGGCCCGGAGATCCGTTCTCACCCGGGGAACCACTCTCACCCTGGAAAAATGATGCACAAGGTCAGTGTCTGGGACCCCATTCTTGGCCGCCAGCAAACTCCTAGGGAAGACGCCAAAAGCCCTGGTCATCTCAGCTCGCACTGACACAAACTTCAGTCCTGTGAGGGACAATGCCCTGAGCTCTCCAGGCCTGCTGTTGGCCCATCAGGATGTAGGGCTGGTGTTCCCAGCCAAGGCTGTTCTGAGGAGCTAGTTCCACTGAGCTCCACAGTGTCTCCCTGGCTAGGAAGAGGGGCTCCTCATTGTCTCCCTCCTCCCCATCCCATTGTACTTTCTGGCCTCTCACCTTCACACCAGGAGCACCCGCCTCTCCCTTAGCACCGTCCAGGCCTGGATAACCCTAGGGAACAAGAGAAAATGTTCAATCAGACTTCTGGGAAACCCAAGTTGGAAGAAATGCACGCACCCCAAAGTGCTTTTCTCTCCCACCAGGCATCTCTTCCTTCCAACCTTCTCACCCGTGATACTTACTCTGTGACCTTTGACACCAGGAAGGCCTGGGGTTCCTGGGAAACCACGAGCACCCTGCAATCCAAAGTGGAGGTGTTCAGAGCACAGAGTAAAATAACAGTGGAAAGCTGCCCTGGGCTGCAGGAGGGCCTCCAGTTCCCTTGGGCCACCAGGGCGTTGTCTCGAATCCCCACACTTGGACAGCTCTTTCTGTAAAACCCAGACCACCCCTCCCCGTACCCCCCATTTTATGCAAAGTGGTATAAATAACAACTGCCCAGCCTCCCTCATGAGAGCCTGAGTGGAAATTACAAACATGGTCGTGATAAATATAGGGGCTACTGGCGTTTCATCTCAGAAGTGACCTCATTGAACTGGATGCACTGTGTTTAAGGCCACAGGGAGGGAGACGCTAGGAAAGATGCCTGAGGCTGGGAACGGTGGCGTTTACCTGAGGACCAGGCGGACCCCTTTCACCAGCTTTTCCAGGTTTTCCAGCTTCACCCTGAAGGGAGAGAGAGAGATATCCCAGCTTCCTCAGAGACGCAGTAGCATAGTGGGGGCACCCCAGAGGGCTTCCCTCCTTCCAGCCCTCCATGCCTTTGCCTACCGGCTCACTCATCTCCCTCACCTCCTTCAGACTCCACGTGCCTGGATGCCTTTCATGGGTCACCATTTATTCTTTTGGACACATGCATAGCCCATGGGCAAGCTCCTCTGTCCTCACCAGCCTCCAACTTCCCCTGAGAGGCTTTTTCTCTCCTCTCCTAGGTTCTGCTGACTGTATGTGCTCTCTCTAACCTCAAGAGACTTTTACTGTCTAATGCAATTCATAAAAATAGCACAAGAGTGCCAATTCTTGTCTCTTCATTTCGTTTGCATCCTTTGTAGACATCCTGACTCAGGCTGTGCTTTTTCTAACTCATTTACAATTAAGATAATGCTGGGTTGTTGAACGCTTCTTTCTTTGTTTTTCCTTCTCTACATCTTTCTGCC
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GGCCTAGGGCCTGACTGAGCAGGTCAGGGGGGTACCTTTTCCTGCTGAGTCCTGCCTGTCAGTCTCTGCCTCTCCTTAGAAGCTAAAGAAGGATGCTTTAGGGGGAGCTCGTGTTTTAAATACAACTCAACTCTTCTTCCTGGCTGGGGTCCATTTCTCCTAACGGAGACTCTCCAGATTGGCATTTAAGAGGAAAGCAAGAGAAAACTTAGAAAAAATGTCAGCAGGAACATAAAGCTTCAGGATTGGCCACAGCCCCTCTGGGCTGGCCTGGCTGCTTCGGGAAGCAGTTCCTTGGGGAGCTCTGGAGCACCCTCTCCCCAGGGGTCAGCCAGCAGGAGGGCCCAGCCTGGGCCTGAGTGAAAGGGAGCTGCCATGCTGCTCTGAGAGGCCAGAACTAGGCTGACATCTGCCACCTCTCCCTGCAGCAAGTCTGGAGAGAGGATACAGGCCCAAGGGAGGGCACATGACCACAGCAGGCAGACACCAACCCAGCCCAGTCTCCAGGCCAGCCTTGACACTAGATCAGCACTTGGATCTCCATGAGCCTACCCCGTGTCTGGGGCCTGCACACCCCGGACACTGCACAGCCCCCTTCTGGAAGTCAAGGCTGAGAAGGCTGCTGGGATACCACAGAGCAGAGGCCTCGCAGAGCAGACTCCAGAGAGGAGTCTGATGGGAGGGGAGAGGGAGGAGTAGCAAAGAAGGGCTCAAAGGCAATGTTGTCAATCTTCTAAGCCAAATCCTACACACGCTGCCAGCCTAACTACCGTGCGGACAGGAACCAACAGAGAGAACCAAGAAGCAGGGCGGCTGTGCCCAGGAAGGAGGGAACAAGGACAGGAGATGGAGCTTGTCTTTAGCCCATGCAGACTAGGGCCACCGCAGCTCTGAGCCTCGCTAAAAGGCCACAAGCCAGCATCCTGCTAATCTGTAGAAACGGCAGTGTTTCTTGGCAGCCCCAGTGCTCTCTAATCCCCTCACACAAAGTGACCCTGGGGCAAGGCACTTCAGCAGCTCTGGCTGACAAAGGGGGGTCGAGGCTTCTGCTTATTTCACTGATCTGCCTTTGAGGGAAACTTCTGCCAAACAGACACATTAGCTGGAAAGCAGCACAACGGAGTGAAGCTGCTTTATTTTGGCCAGCCCTGCAAGGACCTGTGAGGAGGGGCCTCAGAGCTTGGGTGTTGGGGGTATGAAATCAGCAGAAAGCATAATCTTTCTTAAACACAGCTTTCATCGCATCACTCGCCTGACCAAGTGCCTACAAGGACTCTCTATTGCTAAGGAATCAGAGCTAAACGCCTCTGTCTGGCACCCTGCACCCTCCATCAGCTGCCAATCCCCTCACCCTTAATTTCCCACATTAACTAGAGGCCACCAGAGTCTAAGGCTGCAAGGCACTATTTATCTTAAGCTATTTCACCTTTCTGTGTCTCGGTTTTTTCATCCGTAAAATGGGGAGAAGAATAGAACCACCTCTCAGGATATGGAGGAAGATGAGATGAAGTAAAGCATATAGGGTATTAAACACAGGAAGTGCCTATGGAATGGTGGCCCCTGGTACTATAGCATAACATCCCTCACAGCAGCAGCCAGCATAGAGCCCTGTGAGTTGATGCTCACCTGTTCCACTTTTCTAGGGCATTTGAGCAACCAGGAAGAACAGAGAGTAGCACGGTGGTGCTATAGCCAGCTAAGTCTGTCTGTAAACTCCAGCTGGATTGCCCAGGGAGTGGGTGGTGGTTGTTGAAGGGATTACCTGATAATCTGGACTGGTTAAGAGAATCATGCTTTCACCCATCGACCCTCCCATTCCTATCCTTCCTCCTTCAACTGTGCAGACTCAGCCTGGGAAGTTTTGATGGGCACACTGGGGGTGAATTCTTAAGGGATAACAATACTCCCTATGCCTCACAGGGTTGTTTCGAGGGTCAAGAGAAACAAACCTGTAAACTCTAAAGTGCTCGGCAAATGGTGGTGTTTGGCTTTGTCAATTACTCACCGCAGCGCCAGCAGGGCCAGTCCGTCCTCTTTCACCAGGCAGGACACGAGGACCCTGGAACACACACCAGGACAGCCTAAGCATGAGTTGGCTTTACGGTGCTCAGGGTGACCATTTCTACCTGCAGGCCCTTTGCGGATACCAGAGGAGAGGGAGGATGCCCACACCCAGGAAAACAAGGACCTCCTGATGGTGCTGGCTCCTTGACTAGCCAGGATGCCTCAGATCACACCCAACAGTTTTCTCCACAGGCGGAACACACGAATGTTCCTGTTGCTACCTATTGGGAACCTTTGTTACAAGCACACCTTGCTCCTTGCAGTAGATGAGCTTGACAAAATGTTGAGACTCAACAGAATTTTTTTAAATGGGAGCATCTTTAGTGTGATAAAATGGGTATCTTAAGGAAATGTTGGTGAAATCTTGAACAAATCATCTGTCTAATACATTTTGCTTTTTGCTCACAATCAGATGAAATCTACAACACAGAATATGAACTTTGCACAAAGGGAGCTCTTTGCAGCCATCTGATAGTCTGAAGAGTCTTTGATAAACCTTCCTGGAGGGTGTCCATACTTACCATTGGGCCCGGAGATCCGTTCTCACCCGGGGAACCACTCTCACCCTGGAAAAATGATGCACAAGGTCAGTGTCTGGGACCCCATTCTTGGCCGCCAGCAAACTCCTAGGGAAGACGCCAAAAGCCCTGGTCATCTCAGCTCGCACTGACACAAACTTCAGTCCTGTGAGGGACAATGCCCTGAGCTCTCCAGGCCTGCTGTTGGCCCATCAGGATGTAGGGCTGGTGTTCCCAGCCAAGGCTGTTCTGAGGAGCTAGTTCCACTGAGCTCCACAGTGTCTCCCTGGCTAGGAAGAGGGGCTCCTCATTGTCTCCCTCCTCCCCATCCCATTGTACTTTCTGGCCTCTCACCTTCACACCAGGAGCACCCGCCTCTCCCTTAGCACCGTCCAGGCCTGGATAACCCTAGGGAACAAGAGAAAATGTTCAATCAGACTTCTGGGAAACCCAAGTTGGAAGAAATGCACGCACCCCAAAGTGCTTTTCTCTCCCACCAGGCATCTCTTCCTTCCAACCTTCTCACCCGTGATACTTACTCTGTGACCTTTGACACCAGGAAGGCCTGGGGTTCCTGGGAAACCACGAGCACCCTGCAATCCAAAGTGGAGGTGTTCAGAGCACAGAGTAAAATAACAGTGGAAAGCTGCCCTGGGCTGCAGGAGGGCCTCCAGTTCCCTTGGGCCACCAGGGCGTTGTCTCGAATCCCCACACTTGGACAGCTCTTTCTGTAAAACCCAGACCACCCCTCCCCGTACCCCCCATTTTATGCAAAGTGGTATAAATAACAACTGCCCAGCCTCCCTCATGAGAGCCTGAGTGGAAATTACAAACATGGTCGTGATAAATATAGGGGCTACTGGCGTTTCATCTCAGAAGTGACCTCATTGAACTGGATGCACTGTGTTTAAGGCCACAGGGAGGGAGACGCTAGGAAAGATGCCTGAGGCTGGGAACGGTGGCGTTTACCTGAGGACCAGGCGGACCCCTTTCACCAGCTTTTCCAGGTTTTCCAGCTTCACCCTGAAGGGAGAGAGAGAGATATCCCAGCTTCCTCAGAGACGCAGTAGCATAGTGGGGGCACCCCAGAGGGCTTCCCTCCTTCCAGCCCTCCATGCCTTTGCCTACCGGCTCACTCATCTCCCTCACCTCCTTCAGACTCCACGTGCCTGGATGCCTTTCATGGGTCACCATTTATTCTTTTGGACACATGCATAGCCCATGGGCAAGCTCCTCTGTCCTCACCAGCCTCCAACTTCCCCTGAGAGGCTTTTTCTCTCCTCTCCTAGGTTCTGCTGACTGTATGTGCTCTCTCTAACCTCAAGAGACTTTTACTGTCTAATGCAATTCATAAAAATAGCACAAGAGTGCCAATTCTTGTCTCTTCATTTCGTTTGCATCCTTTGTAGACATCCTGACTCAGGCTGTGCTTTTTCTAACTCATTTACAATTAAGATAATGCTGGGTTGTTGAACGCTTCTTTCTTTGTTTTTCCTTCTCTACATCTTTCTGCC
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Task1_train_17495
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A sequence alteration has been identified in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it disease-inducing or harmless?
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Pathogenic; not provided
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CCTCGCTAAAAGGCCACAAGCCAGCATCCTGCTAATCTGTAGAAACGGCAGTGTTTCTTGGCAGCCCCAGTGCTCTCTAATCCCCTCACACAAAGTGACCCTGGGGCAAGGCACTTCAGCAGCTCTGGCTGACAAAGGGGGGTCGAGGCTTCTGCTTATTTCACTGATCTGCCTTTGAGGGAAACTTCTGCCAAACAGACACATTAGCTGGAAAGCAGCACAACGGAGTGAAGCTGCTTTATTTTGGCCAGCCCTGCAAGGACCTGTGAGGAGGGGCCTCAGAGCTTGGGTGTTGGGGGTATGAAATCAGCAGAAAGCATAATCTTTCTTAAACACAGCTTTCATCGCATCACTCGCCTGACCAAGTGCCTACAAGGACTCTCTATTGCTAAGGAATCAGAGCTAAACGCCTCTGTCTGGCACCCTGCACCCTCCATCAGCTGCCAATCCCCTCACCCTTAATTTCCCACATTAACTAGAGGCCACCAGAGTCTAAGGCTGCAAGGCACTATTTATCTTAAGCTATTTCACCTTTCTGTGTCTCGGTTTTTTCATCCGTAAAATGGGGAGAAGAATAGAACCACCTCTCAGGATATGGAGGAAGATGAGATGAAGTAAAGCATATAGGGTATTAAACACAGGAAGTGCCTATGGAATGGTGGCCCCTGGTACTATAGCATAACATCCCTCACAGCAGCAGCCAGCATAGAGCCCTGTGAGTTGATGCTCACCTGTTCCACTTTTCTAGGGCATTTGAGCAACCAGGAAGAACAGAGAGTAGCACGGTGGTGCTATAGCCAGCTAAGTCTGTCTGTAAACTCCAGCTGGATTGCCCAGGGAGTGGGTGGTGGTTGTTGAAGGGATTACCTGATAATCTGGACTGGTTAAGAGAATCATGCTTTCACCCATCGACCCTCCCATTCCTATCCTTCCTCCTTCAACTGTGCAGACTCAGCCTGGGAAGTTTTGATGGGCACACTGGGGGTGAATTCTTAAGGGATAACAATACTCCCTATGCCTCACAGGGTTGTTTCGAGGGTCAAGAGAAACAAACCTGTAAACTCTAAAGTGCTCGGCAAATGGTGGTGTTTGGCTTTGTCAATTACTCACCGCAGCGCCAGCAGGGCCAGTCCGTCCTCTTTCACCAGGCAGGCCACGAGGACCCTGGAACACACACCAGGACAGCCTAAGCATGAGTTGGCTTTACGGTGCTCAGGGTGACCATTTCTACCTGCAGGCCCTTTGCGGATACCAGAGGAGAGGGAGGATGCCCACACCCAGGAAAACAAGGACCTCCTGATGGTGCTGGCTCCTTGACTAGCCAGGATGCCTCAGATCACACCCAACAGTTTTCTCCACAGGCGGAACACACGAATGTTCCTGTTGCTACCTATTGGGAACCTTTGTTACAAGCACACCTTGCTCCTTGCAGTAGATGAGCTTGACAAAATGTTGAGACTCAACAGAATTTTTTTAAATGGGAGCATCTTTAGTGTGATAAAATGGGTATCTTAAGGAAATGTTGGTGAAATCTTGAACAAATCATCTGTCTAATACATTTTGCTTTTTGCTCACAATCAGATGAAATCTACAACACAGAATATGAACTTTGCACAAAGGGAGCTCTTTGCAGCCATCTGATAGTCTGAAGAGTCTTTGATAAACCTTCCTGGAGGGTGTCCATACTTACCATTGGGCCCGGAGATCCGTTCTCACCCGGGGAACCACTCTCACCCTGGAAAAATGATGCACAAGGTCAGTGTCTGGGACCCCATTCTTGGCCGCCAGCAAACTCCTAGGGAAGACGCCAAAAGCCCTGGTCATCTCAGCTCGCACTGACACAAACTTCAGTCCTGTGAGGGACAATGCCCTGAGCTCTCCAGGCCTGCTGTTGGCCCATCAGGATGTAGGGCTGGTGTTCCCAGCCAAGGCTGTTCTGAGGAGCTAGTTCCACTGAGCTCCACAGTGTCTCCCTGGCTAGGAAGAGGGGCTCCTCATTGTCTCCCTCCTCCCCATCCCATTGTACTTTCTGGCCTCTCACCTTCACACCAGGAGCACCCGCCTCTCCCTTAGCACCGTCCAGGCCTGGATAACCCTAGGGAACAAGAGAAAATGTTCAATCAGACTTCTGGGAAACCCAAGTTGGAAGAAATGCACGCACCCCAAAGTGCTTTTCTCTCCCACCAGGCATCTCTTCCTTCCAACCTTCTCACCCGTGATACTTACTCTGTGACCTTTGACACCAGGAAGGCCTGGGGTTCCTGGGAAACCACGAGCACCCTGCAATCCAAAGTGGAGGTGTTCAGAGCACAGAGTAAAATAACAGTGGAAAGCTGCCCTGGGCTGCAGGAGGGCCTCCAGTTCCCTTGGGCCACCAGGGCGTTGTCTCGAATCCCCACACTTGGACAGCTCTTTCTGTAAAACCCAGACCACCCCTCCCCGTACCCCCCATTTTATGCAAAGTGGTATAAATAACAACTGCCCAGCCTCCCTCATGAGAGCCTGAGTGGAAATTACAAACATGGTCGTGATAAATATAGGGGCTACTGGCGTTTCATCTCAGAAGTGACCTCATTGAACTGGATGCACTGTGTTTAAGGCCACAGGGAGGGAGACGCTAGGAAAGATGCCTGAGGCTGGGAACGGTGGCGTTTACCTGAGGACCAGGCGGACCCCTTTCACCAGCTTTTCCAGGTTTTCCAGCTTCACCCTGAAGGGAGAGAGAGAGATATCCCAGCTTCCTCAGAGACGCAGTAGCATAGTGGGGGCACCCCAGAGGGCTTCCCTCCTTCCAGCCCTCCATGCCTTTGCCTACCGGCTCACTCATCTCCCTCACCTCCTTCAGACTCCACGTGCCTGGATGCCTTTCATGGGTCACCATTTATTCTTTTGGACACATGCATAGCCCATGGGCAAGCTCCTCTGTCCTCACCAGCCTCCAACTTCCCCTGAGAGGCTTTTTCTCTCCTCTCCTAGGTTCTGCTGACTGTATGTGCTCTCTCTAACCTCAAGAGACTTTTACTGTCTAATGCAATTCATAAAAATAGCACAAGAGTGCCAATTCTTGTCTCTTCATTTCGTTTGCATCCTTTGTAGACATCCTGACTCAGGCTGTGCTTTTTCTAACTCATTTACAATTAAGATAATGCTGGGTTGTTGAACGCTTCTTTCTTTGTTTTTCCTTCTCTACATCTTTCTGCCTTGTATTTTTTCTCTCCCTTCTCTCATTTCTCAATTTCCCTTCCTGGGGCTAATGATGTTTTAATTATTTGTCTTCCCCTTGGATCCAAAGCGGTCCCCAGGGAACTTGCCAGCACAGTCACAGTGGCCATATAGATAGGAGATGGCGTCAGGGTTTGGGACTGCCCAGTCTTGCTCCTCAAGATACCTCCACCCTGGGTGCCTCCCTGTCACTCCCCAAGCACACACCCTCTCCAGGCCCTTTCAAAGGAGGCAGCTCCTCATTTGTCTACTCGTGTATACTCACATCATCACCAGGCTTTCCAGGGGGACCAGGAGGACCACGGGGACCCATGGGACCCTACAAACAAAGGAAGATAGTTTAAGAGATGGTTATAGTGGGAAGACACCTAAGCAATGGACAAAACTTTGACATTGTAGTTTTGGAAGCCAGTTCTTCTATGAAGAAGAAAGATGGGAAGGTCAGAGCAAAGGTGCAGAGATCATAGTGGGACGCAGCAGATAGCACAGGCTGGGGTGACCCGGAAAGGGGGCTGTTAGGACAGAGTCCCTGGTGGTCCTTGCCACATTGGGCTGTCTGTCAGAGTTCCTCCACAGCTAGGAAGTGACATCCGAATTTCCTTGGGGCCACCGACTGTGGGAAAGAGCTGGGCAGAGCCTGGGAGGGACAGCAGCTGCGGTCCTAGTGGTCTATCATTAGAGGCTCCCCCAGAGAAGGGACAGGGCCGTGCTGGTACTCACAGAGACACCAGGTTCACCAGGTTCACCAGGATTGCCTTGAAATCCTTGAGGCCCCTAAAAAGTAAAATGAGGATACCAGGTCAATCCCTATAAACTGCTAAAACATCATAGTGCTTGGGAATCATCTGCGACACGATGGAGGCAAAAAGAATTG
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CCTCGCTAAAAGGCCACAAGCCAGCATCCTGCTAATCTGTAGAAACGGCAGTGTTTCTTGGCAGCCCCAGTGCTCTCTAATCCCCTCACACAAAGTGACCCTGGGGCAAGGCACTTCAGCAGCTCTGGCTGACAAAGGGGGGTCGAGGCTTCTGCTTATTTCACTGATCTGCCTTTGAGGGAAACTTCTGCCAAACAGACACATTAGCTGGAAAGCAGCACAACGGAGTGAAGCTGCTTTATTTTGGCCAGCCCTGCAAGGACCTGTGAGGAGGGGCCTCAGAGCTTGGGTGTTGGGGGTATGAAATCAGCAGAAAGCATAATCTTTCTTAAACACAGCTTTCATCGCATCACTCGCCTGACCAAGTGCCTACAAGGACTCTCTATTGCTAAGGAATCAGAGCTAAACGCCTCTGTCTGGCACCCTGCACCCTCCATCAGCTGCCAATCCCCTCACCCTTAATTTCCCACATTAACTAGAGGCCACCAGAGTCTAAGGCTGCAAGGCACTATTTATCTTAAGCTATTTCACCTTTCTGTGTCTCGGTTTTTTCATCCGTAAAATGGGGAGAAGAATAGAACCACCTCTCAGGATATGGAGGAAGATGAGATGAAGTAAAGCATATAGGGTATTAAACACAGGAAGTGCCTATGGAATGGTGGCCCCTGGTACTATAGCATAACATCCCTCACAGCAGCAGCCAGCATAGAGCCCTGTGAGTTGATGCTCACCTGTTCCACTTTTCTAGGGCATTTGAGCAACCAGGAAGAACAGAGAGTAGCACGGTGGTGCTATAGCCAGCTAAGTCTGTCTGTAAACTCCAGCTGGATTGCCCAGGGAGTGGGTGGTGGTTGTTGAAGGGATTACCTGATAATCTGGACTGGTTAAGAGAATCATGCTTTCACCCATCGACCCTCCCATTCCTATCCTTCCTCCTTCAACTGTGCAGACTCAGCCTGGGAAGTTTTGATGGGCACACTGGGGGTGAATTCTTAAGGGATAACAATACTCCCTATGCCTCACAGGGTTGTTTCGAGGGTCAAGAGAAACAAACCTGTAAACTCTAAAGTGCTCGGCAAATGGTGGTGTTTGGCTTTGTCAATTACTCACCGCAGCGCCAGCAGGGCCAGTCCGTCCTCTTTCACCAGGCAGGCCACGAGGACCCTGGAACACACACCAGGACAGCCTAAGCATGAGTTGGCTTTACGGTGCTCAGGGTGACCATTTCTACCTGCAGGCCCTTTGCGGATACCAGAGGAGAGGGAGGATGCCCACACCCAGGAAAACAAGGACCTCCTGATGGTGCTGGCTCCTTGACTAGCCAGGATGCCTCAGATCACACCCAACAGTTTTCTCCACAGGCGGAACACACGAATGTTCCTGTTGCTACCTATTGGGAACCTTTGTTACAAGCACACCTTGCTCCTTGCAGTAGATGAGCTTGACAAAATGTTGAGACTCAACAGAATTTTTTTAAATGGGAGCATCTTTAGTGTGATAAAATGGGTATCTTAAGGAAATGTTGGTGAAATCTTGAACAAATCATCTGTCTAATACATTTTGCTTTTTGCTCACAATCAGATGAAATCTACAACACAGAATATGAACTTTGCACAAAGGGAGCTCTTTGCAGCCATCTGATAGTCTGAAGAGTCTTTGATAAACCTTCCTGGAGGGTGTCCATACTTACCATTGGGCCCGGAGATCCGTTCTCACCCGGGGAACCACTCTCACCCTGGAAAAATGATGCACAAGGTCAGTGTCTGGGACCCCATTCTTGGCCGCCAGCAAACTCCTAGGGAAGACGCCAAAAGCCCTGGTCATCTCAGCTCGCACTGACACAAACTTCAGTCCTGTGAGGGACAATGCCCTGAGCTCTCCAGGCCTGCTGTTGGCCCATCAGGATGTAGGGCTGGTGTTCCCAGCCAAGGCTGTTCTGAGGAGCTAGTTCCACTGAGCTCCACAGTGTCTCCCTGGCTAGGAAGAGGGGCTCCTCATTGTCTCCCTCCTCCCCATCCCATTGTACTTTCTGGCCTCTCACCTTCACATCAGGAGCACCCGCCTCTCCCTTAGCACCGTCCAGGCCTGGATAACCCTAGGGAACAAGAGAAAATGTTCAATCAGACTTCTGGGAAACCCAAGTTGGAAGAAATGCACGCACCCCAAAGTGCTTTTCTCTCCCACCAGGCATCTCTTCCTTCCAACCTTCTCACCCGTGATACTTACTCTGTGACCTTTGACACCAGGAAGGCCTGGGGTTCCTGGGAAACCACGAGCACCCTGCAATCCAAAGTGGAGGTGTTCAGAGCACAGAGTAAAATAACAGTGGAAAGCTGCCCTGGGCTGCAGGAGGGCCTCCAGTTCCCTTGGGCCACCAGGGCGTTGTCTCGAATCCCCACACTTGGACAGCTCTTTCTGTAAAACCCAGACCACCCCTCCCCGTACCCCCCATTTTATGCAAAGTGGTATAAATAACAACTGCCCAGCCTCCCTCATGAGAGCCTGAGTGGAAATTACAAACATGGTCGTGATAAATATAGGGGCTACTGGCGTTTCATCTCAGAAGTGACCTCATTGAACTGGATGCACTGTGTTTAAGGCCACAGGGAGGGAGACGCTAGGAAAGATGCCTGAGGCTGGGAACGGTGGCGTTTACCTGAGGACCAGGCGGACCCCTTTCACCAGCTTTTCCAGGTTTTCCAGCTTCACCCTGAAGGGAGAGAGAGAGATATCCCAGCTTCCTCAGAGACGCAGTAGCATAGTGGGGGCACCCCAGAGGGCTTCCCTCCTTCCAGCCCTCCATGCCTTTGCCTACCGGCTCACTCATCTCCCTCACCTCCTTCAGACTCCACGTGCCTGGATGCCTTTCATGGGTCACCATTTATTCTTTTGGACACATGCATAGCCCATGGGCAAGCTCCTCTGTCCTCACCAGCCTCCAACTTCCCCTGAGAGGCTTTTTCTCTCCTCTCCTAGGTTCTGCTGACTGTATGTGCTCTCTCTAACCTCAAGAGACTTTTACTGTCTAATGCAATTCATAAAAATAGCACAAGAGTGCCAATTCTTGTCTCTTCATTTCGTTTGCATCCTTTGTAGACATCCTGACTCAGGCTGTGCTTTTTCTAACTCATTTACAATTAAGATAATGCTGGGTTGTTGAACGCTTCTTTCTTTGTTTTTCCTTCTCTACATCTTTCTGCCTTGTATTTTTTCTCTCCCTTCTCTCATTTCTCAATTTCCCTTCCTGGGGCTAATGATGTTTTAATTATTTGTCTTCCCCTTGGATCCAAAGCGGTCCCCAGGGAACTTGCCAGCACAGTCACAGTGGCCATATAGATAGGAGATGGCGTCAGGGTTTGGGACTGCCCAGTCTTGCTCCTCAAGATACCTCCACCCTGGGTGCCTCCCTGTCACTCCCCAAGCACACACCCTCTCCAGGCCCTTTCAAAGGAGGCAGCTCCTCATTTGTCTACTCGTGTATACTCACATCATCACCAGGCTTTCCAGGGGGACCAGGAGGACCACGGGGACCCATGGGACCCTACAAACAAAGGAAGATAGTTTAAGAGATGGTTATAGTGGGAAGACACCTAAGCAATGGACAAAACTTTGACATTGTAGTTTTGGAAGCCAGTTCTTCTATGAAGAAGAAAGATGGGAAGGTCAGAGCAAAGGTGCAGAGATCATAGTGGGACGCAGCAGATAGCACAGGCTGGGGTGACCCGGAAAGGGGGCTGTTAGGACAGAGTCCCTGGTGGTCCTTGCCACATTGGGCTGTCTGTCAGAGTTCCTCCACAGCTAGGAAGTGACATCCGAATTTCCTTGGGGCCACCGACTGTGGGAAAGAGCTGGGCAGAGCCTGGGAGGGACAGCAGCTGCGGTCCTAGTGGTCTATCATTAGAGGCTCCCCCAGAGAAGGGACAGGGCCGTGCTGGTACTCACAGAGACACCAGGTTCACCAGGTTCACCAGGATTGCCTTGAAATCCTTGAGGCCCCTAAAAAGTAAAATGAGGATACCAGGTCAATCCCTATAAACTGCTAAAACATCATAGTGCTTGGGAATCATCTGCGACACGATGGAGGCAAAAAGAATTG
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Task1_train_17496
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A variant was discovered in gene COL2A1 (collagen type II alpha 1 chain), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; not provided
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AAGGCCACAAGCCAGCATCCTGCTAATCTGTAGAAACGGCAGTGTTTCTTGGCAGCCCCAGTGCTCTCTAATCCCCTCACACAAAGTGACCCTGGGGCAAGGCACTTCAGCAGCTCTGGCTGACAAAGGGGGGTCGAGGCTTCTGCTTATTTCACTGATCTGCCTTTGAGGGAAACTTCTGCCAAACAGACACATTAGCTGGAAAGCAGCACAACGGAGTGAAGCTGCTTTATTTTGGCCAGCCCTGCAAGGACCTGTGAGGAGGGGCCTCAGAGCTTGGGTGTTGGGGGTATGAAATCAGCAGAAAGCATAATCTTTCTTAAACACAGCTTTCATCGCATCACTCGCCTGACCAAGTGCCTACAAGGACTCTCTATTGCTAAGGAATCAGAGCTAAACGCCTCTGTCTGGCACCCTGCACCCTCCATCAGCTGCCAATCCCCTCACCCTTAATTTCCCACATTAACTAGAGGCCACCAGAGTCTAAGGCTGCAAGGCACTATTTATCTTAAGCTATTTCACCTTTCTGTGTCTCGGTTTTTTCATCCGTAAAATGGGGAGAAGAATAGAACCACCTCTCAGGATATGGAGGAAGATGAGATGAAGTAAAGCATATAGGGTATTAAACACAGGAAGTGCCTATGGAATGGTGGCCCCTGGTACTATAGCATAACATCCCTCACAGCAGCAGCCAGCATAGAGCCCTGTGAGTTGATGCTCACCTGTTCCACTTTTCTAGGGCATTTGAGCAACCAGGAAGAACAGAGAGTAGCACGGTGGTGCTATAGCCAGCTAAGTCTGTCTGTAAACTCCAGCTGGATTGCCCAGGGAGTGGGTGGTGGTTGTTGAAGGGATTACCTGATAATCTGGACTGGTTAAGAGAATCATGCTTTCACCCATCGACCCTCCCATTCCTATCCTTCCTCCTTCAACTGTGCAGACTCAGCCTGGGAAGTTTTGATGGGCACACTGGGGGTGAATTCTTAAGGGATAACAATACTCCCTATGCCTCACAGGGTTGTTTCGAGGGTCAAGAGAAACAAACCTGTAAACTCTAAAGTGCTCGGCAAATGGTGGTGTTTGGCTTTGTCAATTACTCACCGCAGCGCCAGCAGGGCCAGTCCGTCCTCTTTCACCAGGCAGGCCACGAGGACCCTGGAACACACACCAGGACAGCCTAAGCATGAGTTGGCTTTACGGTGCTCAGGGTGACCATTTCTACCTGCAGGCCCTTTGCGGATACCAGAGGAGAGGGAGGATGCCCACACCCAGGAAAACAAGGACCTCCTGATGGTGCTGGCTCCTTGACTAGCCAGGATGCCTCAGATCACACCCAACAGTTTTCTCCACAGGCGGAACACACGAATGTTCCTGTTGCTACCTATTGGGAACCTTTGTTACAAGCACACCTTGCTCCTTGCAGTAGATGAGCTTGACAAAATGTTGAGACTCAACAGAATTTTTTTAAATGGGAGCATCTTTAGTGTGATAAAATGGGTATCTTAAGGAAATGTTGGTGAAATCTTGAACAAATCATCTGTCTAATACATTTTGCTTTTTGCTCACAATCAGATGAAATCTACAACACAGAATATGAACTTTGCACAAAGGGAGCTCTTTGCAGCCATCTGATAGTCTGAAGAGTCTTTGATAAACCTTCCTGGAGGGTGTCCATACTTACCATTGGGCCCGGAGATCCGTTCTCACCCGGGGAACCACTCTCACCCTGGAAAAATGATGCACAAGGTCAGTGTCTGGGACCCCATTCTTGGCCGCCAGCAAACTCCTAGGGAAGACGCCAAAAGCCCTGGTCATCTCAGCTCGCACTGACACAAACTTCAGTCCTGTGAGGGACAATGCCCTGAGCTCTCCAGGCCTGCTGTTGGCCCATCAGGATGTAGGGCTGGTGTTCCCAGCCAAGGCTGTTCTGAGGAGCTAGTTCCACTGAGCTCCACAGTGTCTCCCTGGCTAGGAAGAGGGGCTCCTCATTGTCTCCCTCCTCCCCATCCCATTGTACTTTCTGGCCTCTCACCTTCACACCAGGAGCACCCGCCTCTCCCTTAGCACCGTCCAGGCCTGGATAACCCTAGGGAACAAGAGAAAATGTTCAATCAGACTTCTGGGAAACCCAAGTTGGAAGAAATGCACGCACCCCAAAGTGCTTTTCTCTCCCACCAGGCATCTCTTCCTTCCAACCTTCTCACCCGTGATACTTACTCTGTGACCTTTGACACCAGGAAGGCCTGGGGTTCCTGGGAAACCACGAGCACCCTGCAATCCAAAGTGGAGGTGTTCAGAGCACAGAGTAAAATAACAGTGGAAAGCTGCCCTGGGCTGCAGGAGGGCCTCCAGTTCCCTTGGGCCACCAGGGCGTTGTCTCGAATCCCCACACTTGGACAGCTCTTTCTGTAAAACCCAGACCACCCCTCCCCGTACCCCCCATTTTATGCAAAGTGGTATAAATAACAACTGCCCAGCCTCCCTCATGAGAGCCTGAGTGGAAATTACAAACATGGTCGTGATAAATATAGGGGCTACTGGCGTTTCATCTCAGAAGTGACCTCATTGAACTGGATGCACTGTGTTTAAGGCCACAGGGAGGGAGACGCTAGGAAAGATGCCTGAGGCTGGGAACGGTGGCGTTTACCTGAGGACCAGGCGGACCCCTTTCACCAGCTTTTCCAGGTTTTCCAGCTTCACCCTGAAGGGAGAGAGAGAGATATCCCAGCTTCCTCAGAGACGCAGTAGCATAGTGGGGGCACCCCAGAGGGCTTCCCTCCTTCCAGCCCTCCATGCCTTTGCCTACCGGCTCACTCATCTCCCTCACCTCCTTCAGACTCCACGTGCCTGGATGCCTTTCATGGGTCACCATTTATTCTTTTGGACACATGCATAGCCCATGGGCAAGCTCCTCTGTCCTCACCAGCCTCCAACTTCCCCTGAGAGGCTTTTTCTCTCCTCTCCTAGGTTCTGCTGACTGTATGTGCTCTCTCTAACCTCAAGAGACTTTTACTGTCTAATGCAATTCATAAAAATAGCACAAGAGTGCCAATTCTTGTCTCTTCATTTCGTTTGCATCCTTTGTAGACATCCTGACTCAGGCTGTGCTTTTTCTAACTCATTTACAATTAAGATAATGCTGGGTTGTTGAACGCTTCTTTCTTTGTTTTTCCTTCTCTACATCTTTCTGCCTTGTATTTTTTCTCTCCCTTCTCTCATTTCTCAATTTCCCTTCCTGGGGCTAATGATGTTTTAATTATTTGTCTTCCCCTTGGATCCAAAGCGGTCCCCAGGGAACTTGCCAGCACAGTCACAGTGGCCATATAGATAGGAGATGGCGTCAGGGTTTGGGACTGCCCAGTCTTGCTCCTCAAGATACCTCCACCCTGGGTGCCTCCCTGTCACTCCCCAAGCACACACCCTCTCCAGGCCCTTTCAAAGGAGGCAGCTCCTCATTTGTCTACTCGTGTATACTCACATCATCACCAGGCTTTCCAGGGGGACCAGGAGGACCACGGGGACCCATGGGACCCTACAAACAAAGGAAGATAGTTTAAGAGATGGTTATAGTGGGAAGACACCTAAGCAATGGACAAAACTTTGACATTGTAGTTTTGGAAGCCAGTTCTTCTATGAAGAAGAAAGATGGGAAGGTCAGAGCAAAGGTGCAGAGATCATAGTGGGACGCAGCAGATAGCACAGGCTGGGGTGACCCGGAAAGGGGGCTGTTAGGACAGAGTCCCTGGTGGTCCTTGCCACATTGGGCTGTCTGTCAGAGTTCCTCCACAGCTAGGAAGTGACATCCGAATTTCCTTGGGGCCACCGACTGTGGGAAAGAGCTGGGCAGAGCCTGGGAGGGACAGCAGCTGCGGTCCTAGTGGTCTATCATTAGAGGCTCCCCCAGAGAAGGGACAGGGCCGTGCTGGTACTCACAGAGACACCAGGTTCACCAGGTTCACCAGGATTGCCTTGAAATCCTTGAGGCCCCTAAAAAGTAAAATGAGGATACCAGGTCAATCCCTATAAACTGCTAAAACATCATAGTGCTTGGGAATCATCTGCGACACGATGGAGGCAAAAAGAATTGCAGATACTT
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AAGGCCACAAGCCAGCATCCTGCTAATCTGTAGAAACGGCAGTGTTTCTTGGCAGCCCCAGTGCTCTCTAATCCCCTCACACAAAGTGACCCTGGGGCAAGGCACTTCAGCAGCTCTGGCTGACAAAGGGGGGTCGAGGCTTCTGCTTATTTCACTGATCTGCCTTTGAGGGAAACTTCTGCCAAACAGACACATTAGCTGGAAAGCAGCACAACGGAGTGAAGCTGCTTTATTTTGGCCAGCCCTGCAAGGACCTGTGAGGAGGGGCCTCAGAGCTTGGGTGTTGGGGGTATGAAATCAGCAGAAAGCATAATCTTTCTTAAACACAGCTTTCATCGCATCACTCGCCTGACCAAGTGCCTACAAGGACTCTCTATTGCTAAGGAATCAGAGCTAAACGCCTCTGTCTGGCACCCTGCACCCTCCATCAGCTGCCAATCCCCTCACCCTTAATTTCCCACATTAACTAGAGGCCACCAGAGTCTAAGGCTGCAAGGCACTATTTATCTTAAGCTATTTCACCTTTCTGTGTCTCGGTTTTTTCATCCGTAAAATGGGGAGAAGAATAGAACCACCTCTCAGGATATGGAGGAAGATGAGATGAAGTAAAGCATATAGGGTATTAAACACAGGAAGTGCCTATGGAATGGTGGCCCCTGGTACTATAGCATAACATCCCTCACAGCAGCAGCCAGCATAGAGCCCTGTGAGTTGATGCTCACCTGTTCCACTTTTCTAGGGCATTTGAGCAACCAGGAAGAACAGAGAGTAGCACGGTGGTGCTATAGCCAGCTAAGTCTGTCTGTAAACTCCAGCTGGATTGCCCAGGGAGTGGGTGGTGGTTGTTGAAGGGATTACCTGATAATCTGGACTGGTTAAGAGAATCATGCTTTCACCCATCGACCCTCCCATTCCTATCCTTCCTCCTTCAACTGTGCAGACTCAGCCTGGGAAGTTTTGATGGGCACACTGGGGGTGAATTCTTAAGGGATAACAATACTCCCTATGCCTCACAGGGTTGTTTCGAGGGTCAAGAGAAACAAACCTGTAAACTCTAAAGTGCTCGGCAAATGGTGGTGTTTGGCTTTGTCAATTACTCACCGCAGCGCCAGCAGGGCCAGTCCGTCCTCTTTCACCAGGCAGGCCACGAGGACCCTGGAACACACACCAGGACAGCCTAAGCATGAGTTGGCTTTACGGTGCTCAGGGTGACCATTTCTACCTGCAGGCCCTTTGCGGATACCAGAGGAGAGGGAGGATGCCCACACCCAGGAAAACAAGGACCTCCTGATGGTGCTGGCTCCTTGACTAGCCAGGATGCCTCAGATCACACCCAACAGTTTTCTCCACAGGCGGAACACACGAATGTTCCTGTTGCTACCTATTGGGAACCTTTGTTACAAGCACACCTTGCTCCTTGCAGTAGATGAGCTTGACAAAATGTTGAGACTCAACAGAATTTTTTTAAATGGGAGCATCTTTAGTGTGATAAAATGGGTATCTTAAGGAAATGTTGGTGAAATCTTGAACAAATCATCTGTCTAATACATTTTGCTTTTTGCTCACAATCAGATGAAATCTACAACACAGAATATGAACTTTGCACAAAGGGAGCTCTTTGCAGCCATCTGATAGTCTGAAGAGTCTTTGATAAACCTTCCTGGAGGGTGTCCATACTTACCATTGGGCCCGGAGATCCGTTCTCACCCGGGGAACCACTCTCACCCTGGAAAAATGATGCACAAGGTCAGTGTCTGGGACCCCATTCTTGGCCGCCAGCAAACTCCTAGGGAAGACGCCAAAAGCCCTGGTCATCTCAGCTCGCACTGACACAAACTTCAGTCCTGTGAGGGACAATGCCCTGAGCTCTCCAGGCCTGCTGTTGGCCCATCAGGATGTAGGGCTGGTGTTCCCAGCCAAGGCTGTTCTGAGGAGCTAGTTCCACTGAGCTCCACAGTGTCTCCCTGGCTAGGAAGAGGGGCTCCTCATTGTCTCCCTCCTCCCCATCCCATTGTACTTTCTGGCCTCTCACCTTCACACCAGGAGCATCCGCCTCTCCCTTAGCACCGTCCAGGCCTGGATAACCCTAGGGAACAAGAGAAAATGTTCAATCAGACTTCTGGGAAACCCAAGTTGGAAGAAATGCACGCACCCCAAAGTGCTTTTCTCTCCCACCAGGCATCTCTTCCTTCCAACCTTCTCACCCGTGATACTTACTCTGTGACCTTTGACACCAGGAAGGCCTGGGGTTCCTGGGAAACCACGAGCACCCTGCAATCCAAAGTGGAGGTGTTCAGAGCACAGAGTAAAATAACAGTGGAAAGCTGCCCTGGGCTGCAGGAGGGCCTCCAGTTCCCTTGGGCCACCAGGGCGTTGTCTCGAATCCCCACACTTGGACAGCTCTTTCTGTAAAACCCAGACCACCCCTCCCCGTACCCCCCATTTTATGCAAAGTGGTATAAATAACAACTGCCCAGCCTCCCTCATGAGAGCCTGAGTGGAAATTACAAACATGGTCGTGATAAATATAGGGGCTACTGGCGTTTCATCTCAGAAGTGACCTCATTGAACTGGATGCACTGTGTTTAAGGCCACAGGGAGGGAGACGCTAGGAAAGATGCCTGAGGCTGGGAACGGTGGCGTTTACCTGAGGACCAGGCGGACCCCTTTCACCAGCTTTTCCAGGTTTTCCAGCTTCACCCTGAAGGGAGAGAGAGAGATATCCCAGCTTCCTCAGAGACGCAGTAGCATAGTGGGGGCACCCCAGAGGGCTTCCCTCCTTCCAGCCCTCCATGCCTTTGCCTACCGGCTCACTCATCTCCCTCACCTCCTTCAGACTCCACGTGCCTGGATGCCTTTCATGGGTCACCATTTATTCTTTTGGACACATGCATAGCCCATGGGCAAGCTCCTCTGTCCTCACCAGCCTCCAACTTCCCCTGAGAGGCTTTTTCTCTCCTCTCCTAGGTTCTGCTGACTGTATGTGCTCTCTCTAACCTCAAGAGACTTTTACTGTCTAATGCAATTCATAAAAATAGCACAAGAGTGCCAATTCTTGTCTCTTCATTTCGTTTGCATCCTTTGTAGACATCCTGACTCAGGCTGTGCTTTTTCTAACTCATTTACAATTAAGATAATGCTGGGTTGTTGAACGCTTCTTTCTTTGTTTTTCCTTCTCTACATCTTTCTGCCTTGTATTTTTTCTCTCCCTTCTCTCATTTCTCAATTTCCCTTCCTGGGGCTAATGATGTTTTAATTATTTGTCTTCCCCTTGGATCCAAAGCGGTCCCCAGGGAACTTGCCAGCACAGTCACAGTGGCCATATAGATAGGAGATGGCGTCAGGGTTTGGGACTGCCCAGTCTTGCTCCTCAAGATACCTCCACCCTGGGTGCCTCCCTGTCACTCCCCAAGCACACACCCTCTCCAGGCCCTTTCAAAGGAGGCAGCTCCTCATTTGTCTACTCGTGTATACTCACATCATCACCAGGCTTTCCAGGGGGACCAGGAGGACCACGGGGACCCATGGGACCCTACAAACAAAGGAAGATAGTTTAAGAGATGGTTATAGTGGGAAGACACCTAAGCAATGGACAAAACTTTGACATTGTAGTTTTGGAAGCCAGTTCTTCTATGAAGAAGAAAGATGGGAAGGTCAGAGCAAAGGTGCAGAGATCATAGTGGGACGCAGCAGATAGCACAGGCTGGGGTGACCCGGAAAGGGGGCTGTTAGGACAGAGTCCCTGGTGGTCCTTGCCACATTGGGCTGTCTGTCAGAGTTCCTCCACAGCTAGGAAGTGACATCCGAATTTCCTTGGGGCCACCGACTGTGGGAAAGAGCTGGGCAGAGCCTGGGAGGGACAGCAGCTGCGGTCCTAGTGGTCTATCATTAGAGGCTCCCCCAGAGAAGGGACAGGGCCGTGCTGGTACTCACAGAGACACCAGGTTCACCAGGTTCACCAGGATTGCCTTGAAATCCTTGAGGCCCCTAAAAAGTAAAATGAGGATACCAGGTCAATCCCTATAAACTGCTAAAACATCATAGTGCTTGGGAATCATCTGCGACACGATGGAGGCAAAAAGAATTGCAGATACTT
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Task1_train_17497
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A variant on Chromosome 12 in gene COL2A1 (collagen type II alpha 1 chain) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Spondyloepiphyseal dysplasia with metatarsal shortening
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GAGTGAAGCTGCTTTATTTTGGCCAGCCCTGCAAGGACCTGTGAGGAGGGGCCTCAGAGCTTGGGTGTTGGGGGTATGAAATCAGCAGAAAGCATAATCTTTCTTAAACACAGCTTTCATCGCATCACTCGCCTGACCAAGTGCCTACAAGGACTCTCTATTGCTAAGGAATCAGAGCTAAACGCCTCTGTCTGGCACCCTGCACCCTCCATCAGCTGCCAATCCCCTCACCCTTAATTTCCCACATTAACTAGAGGCCACCAGAGTCTAAGGCTGCAAGGCACTATTTATCTTAAGCTATTTCACCTTTCTGTGTCTCGGTTTTTTCATCCGTAAAATGGGGAGAAGAATAGAACCACCTCTCAGGATATGGAGGAAGATGAGATGAAGTAAAGCATATAGGGTATTAAACACAGGAAGTGCCTATGGAATGGTGGCCCCTGGTACTATAGCATAACATCCCTCACAGCAGCAGCCAGCATAGAGCCCTGTGAGTTGATGCTCACCTGTTCCACTTTTCTAGGGCATTTGAGCAACCAGGAAGAACAGAGAGTAGCACGGTGGTGCTATAGCCAGCTAAGTCTGTCTGTAAACTCCAGCTGGATTGCCCAGGGAGTGGGTGGTGGTTGTTGAAGGGATTACCTGATAATCTGGACTGGTTAAGAGAATCATGCTTTCACCCATCGACCCTCCCATTCCTATCCTTCCTCCTTCAACTGTGCAGACTCAGCCTGGGAAGTTTTGATGGGCACACTGGGGGTGAATTCTTAAGGGATAACAATACTCCCTATGCCTCACAGGGTTGTTTCGAGGGTCAAGAGAAACAAACCTGTAAACTCTAAAGTGCTCGGCAAATGGTGGTGTTTGGCTTTGTCAATTACTCACCGCAGCGCCAGCAGGGCCAGTCCGTCCTCTTTCACCAGGCAGGCCACGAGGACCCTGGAACACACACCAGGACAGCCTAAGCATGAGTTGGCTTTACGGTGCTCAGGGTGACCATTTCTACCTGCAGGCCCTTTGCGGATACCAGAGGAGAGGGAGGATGCCCACACCCAGGAAAACAAGGACCTCCTGATGGTGCTGGCTCCTTGACTAGCCAGGATGCCTCAGATCACACCCAACAGTTTTCTCCACAGGCGGAACACACGAATGTTCCTGTTGCTACCTATTGGGAACCTTTGTTACAAGCACACCTTGCTCCTTGCAGTAGATGAGCTTGACAAAATGTTGAGACTCAACAGAATTTTTTTAAATGGGAGCATCTTTAGTGTGATAAAATGGGTATCTTAAGGAAATGTTGGTGAAATCTTGAACAAATCATCTGTCTAATACATTTTGCTTTTTGCTCACAATCAGATGAAATCTACAACACAGAATATGAACTTTGCACAAAGGGAGCTCTTTGCAGCCATCTGATAGTCTGAAGAGTCTTTGATAAACCTTCCTGGAGGGTGTCCATACTTACCATTGGGCCCGGAGATCCGTTCTCACCCGGGGAACCACTCTCACCCTGGAAAAATGATGCACAAGGTCAGTGTCTGGGACCCCATTCTTGGCCGCCAGCAAACTCCTAGGGAAGACGCCAAAAGCCCTGGTCATCTCAGCTCGCACTGACACAAACTTCAGTCCTGTGAGGGACAATGCCCTGAGCTCTCCAGGCCTGCTGTTGGCCCATCAGGATGTAGGGCTGGTGTTCCCAGCCAAGGCTGTTCTGAGGAGCTAGTTCCACTGAGCTCCACAGTGTCTCCCTGGCTAGGAAGAGGGGCTCCTCATTGTCTCCCTCCTCCCCATCCCATTGTACTTTCTGGCCTCTCACCTTCACACCAGGAGCACCCGCCTCTCCCTTAGCACCGTCCAGGCCTGGATAACCCTAGGGAACAAGAGAAAATGTTCAATCAGACTTCTGGGAAACCCAAGTTGGAAGAAATGCACGCACCCCAAAGTGCTTTTCTCTCCCACCAGGCATCTCTTCCTTCCAACCTTCTCACCCGTGATACTTACTCTGTGACCTTTGACACCAGGAAGGCCTGGGGTTCCTGGGAAACCACGAGCACCCTGCAATCCAAAGTGGAGGTGTTCAGAGCACAGAGTAAAATAACAGTGGAAAGCTGCCCTGGGCTGCAGGAGGGCCTCCAGTTCCCTTGGGCCACCAGGGCGTTGTCTCGAATCCCCACACTTGGACAGCTCTTTCTGTAAAACCCAGACCACCCCTCCCCGTACCCCCCATTTTATGCAAAGTGGTATAAATAACAACTGCCCAGCCTCCCTCATGAGAGCCTGAGTGGAAATTACAAACATGGTCGTGATAAATATAGGGGCTACTGGCGTTTCATCTCAGAAGTGACCTCATTGAACTGGATGCACTGTGTTTAAGGCCACAGGGAGGGAGACGCTAGGAAAGATGCCTGAGGCTGGGAACGGTGGCGTTTACCTGAGGACCAGGCGGACCCCTTTCACCAGCTTTTCCAGGTTTTCCAGCTTCACCCTGAAGGGAGAGAGAGAGATATCCCAGCTTCCTCAGAGACGCAGTAGCATAGTGGGGGCACCCCAGAGGGCTTCCCTCCTTCCAGCCCTCCATGCCTTTGCCTACCGGCTCACTCATCTCCCTCACCTCCTTCAGACTCCACGTGCCTGGATGCCTTTCATGGGTCACCATTTATTCTTTTGGACACATGCATAGCCCATGGGCAAGCTCCTCTGTCCTCACCAGCCTCCAACTTCCCCTGAGAGGCTTTTTCTCTCCTCTCCTAGGTTCTGCTGACTGTATGTGCTCTCTCTAACCTCAAGAGACTTTTACTGTCTAATGCAATTCATAAAAATAGCACAAGAGTGCCAATTCTTGTCTCTTCATTTCGTTTGCATCCTTTGTAGACATCCTGACTCAGGCTGTGCTTTTTCTAACTCATTTACAATTAAGATAATGCTGGGTTGTTGAACGCTTCTTTCTTTGTTTTTCCTTCTCTACATCTTTCTGCCTTGTATTTTTTCTCTCCCTTCTCTCATTTCTCAATTTCCCTTCCTGGGGCTAATGATGTTTTAATTATTTGTCTTCCCCTTGGATCCAAAGCGGTCCCCAGGGAACTTGCCAGCACAGTCACAGTGGCCATATAGATAGGAGATGGCGTCAGGGTTTGGGACTGCCCAGTCTTGCTCCTCAAGATACCTCCACCCTGGGTGCCTCCCTGTCACTCCCCAAGCACACACCCTCTCCAGGCCCTTTCAAAGGAGGCAGCTCCTCATTTGTCTACTCGTGTATACTCACATCATCACCAGGCTTTCCAGGGGGACCAGGAGGACCACGGGGACCCATGGGACCCTACAAACAAAGGAAGATAGTTTAAGAGATGGTTATAGTGGGAAGACACCTAAGCAATGGACAAAACTTTGACATTGTAGTTTTGGAAGCCAGTTCTTCTATGAAGAAGAAAGATGGGAAGGTCAGAGCAAAGGTGCAGAGATCATAGTGGGACGCAGCAGATAGCACAGGCTGGGGTGACCCGGAAAGGGGGCTGTTAGGACAGAGTCCCTGGTGGTCCTTGCCACATTGGGCTGTCTGTCAGAGTTCCTCCACAGCTAGGAAGTGACATCCGAATTTCCTTGGGGCCACCGACTGTGGGAAAGAGCTGGGCAGAGCCTGGGAGGGACAGCAGCTGCGGTCCTAGTGGTCTATCATTAGAGGCTCCCCCAGAGAAGGGACAGGGCCGTGCTGGTACTCACAGAGACACCAGGTTCACCAGGTTCACCAGGATTGCCTTGAAATCCTTGAGGCCCCTAAAAAGTAAAATGAGGATACCAGGTCAATCCCTATAAACTGCTAAAACATCATAGTGCTTGGGAATCATCTGCGACACGATGGAGGCAAAAAGAATTGCAGATACTTACAGGAGCACCTGCAGGGCCTGGAGGTCCTCGAGGTCCCATGGGGCCCTGCATCGGAACAGAAAATGAGGGGTTTACTACACATGCTTCCTCAGTGGCCTCCAGTGTGCCATCTTCTCCCAGCCAACAGCCCGGGCAAAGGACAAGAAGTTACTCTGTGGGCAAGGGGCCTAGAGTGGCTGCTCCCTCTCATTTCCCACTCCCCACGCAACACTCT
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GAGTGAAGCTGCTTTATTTTGGCCAGCCCTGCAAGGACCTGTGAGGAGGGGCCTCAGAGCTTGGGTGTTGGGGGTATGAAATCAGCAGAAAGCATAATCTTTCTTAAACACAGCTTTCATCGCATCACTCGCCTGACCAAGTGCCTACAAGGACTCTCTATTGCTAAGGAATCAGAGCTAAACGCCTCTGTCTGGCACCCTGCACCCTCCATCAGCTGCCAATCCCCTCACCCTTAATTTCCCACATTAACTAGAGGCCACCAGAGTCTAAGGCTGCAAGGCACTATTTATCTTAAGCTATTTCACCTTTCTGTGTCTCGGTTTTTTCATCCGTAAAATGGGGAGAAGAATAGAACCACCTCTCAGGATATGGAGGAAGATGAGATGAAGTAAAGCATATAGGGTATTAAACACAGGAAGTGCCTATGGAATGGTGGCCCCTGGTACTATAGCATAACATCCCTCACAGCAGCAGCCAGCATAGAGCCCTGTGAGTTGATGCTCACCTGTTCCACTTTTCTAGGGCATTTGAGCAACCAGGAAGAACAGAGAGTAGCACGGTGGTGCTATAGCCAGCTAAGTCTGTCTGTAAACTCCAGCTGGATTGCCCAGGGAGTGGGTGGTGGTTGTTGAAGGGATTACCTGATAATCTGGACTGGTTAAGAGAATCATGCTTTCACCCATCGACCCTCCCATTCCTATCCTTCCTCCTTCAACTGTGCAGACTCAGCCTGGGAAGTTTTGATGGGCACACTGGGGGTGAATTCTTAAGGGATAACAATACTCCCTATGCCTCACAGGGTTGTTTCGAGGGTCAAGAGAAACAAACCTGTAAACTCTAAAGTGCTCGGCAAATGGTGGTGTTTGGCTTTGTCAATTACTCACCGCAGCGCCAGCAGGGCCAGTCCGTCCTCTTTCACCAGGCAGGCCACGAGGACCCTGGAACACACACCAGGACAGCCTAAGCATGAGTTGGCTTTACGGTGCTCAGGGTGACCATTTCTACCTGCAGGCCCTTTGCGGATACCAGAGGAGAGGGAGGATGCCCACACCCAGGAAAACAAGGACCTCCTGATGGTGCTGGCTCCTTGACTAGCCAGGATGCCTCAGATCACACCCAACAGTTTTCTCCACAGGCGGAACACACGAATGTTCCTGTTGCTACCTATTGGGAACCTTTGTTACAAGCACACCTTGCTCCTTGCAGTAGATGAGCTTGACAAAATGTTGAGACTCAACAGAATTTTTTTAAATGGGAGCATCTTTAGTGTGATAAAATGGGTATCTTAAGGAAATGTTGGTGAAATCTTGAACAAATCATCTGTCTAATACATTTTGCTTTTTGCTCACAATCAGATGAAATCTACAACACAGAATATGAACTTTGCACAAAGGGAGCTCTTTGCAGCCATCTGATAGTCTGAAGAGTCTTTGATAAACCTTCCTGGAGGGTGTCCATACTTACCATTGGGCCCGGAGATCCGTTCTCACCCGGGGAACCACTCTCACCCTGGAAAAATGATGCACAAGGTCAGTGTCTGGGACCCCATTCTTGGCCGCCAGCAAACTCCTAGGGAAGACGCCAAAAGCCCTGGTCATCTCAGCTCGCACTGACACAAACTTCAGTCCTGTGAGGGACAATGCCCTGAGCTCTCCAGGCCTGCTGTTGGCCCATCAGGATGTAGGGCTGGTGTTCCCAGCCAAGGCTGTTCTGAGGAGCTAGTTCCACTGAGCTCCACAGTGTCTCCCTGGCTAGGAAGAGGGGCTCCTCATTGTCTCCCTCCTCCCCATCCCATTGTACTTTCTGGCCTCTCACCTTCACACCAGGAGCACCCGCCTCTCCCTTAGCACCGTCCAGGCCTGGATAACCCTAGGGAACAAGAGAAAATGTTCAATCAGACTTCTGGGAAACCCAAGTTGGAAGAAATGCACGCACCCCAAAGTGCTTTTCTCTCCCACCAGGCATCTCTTCCTTCCAACCTTCTCACCCGTGATACTTACTCTGTGACCTTTGACACCAGGAAGGCCTGGGGTTCCTGGGAAACCACAAGCACCCTGCAATCCAAAGTGGAGGTGTTCAGAGCACAGAGTAAAATAACAGTGGAAAGCTGCCCTGGGCTGCAGGAGGGCCTCCAGTTCCCTTGGGCCACCAGGGCGTTGTCTCGAATCCCCACACTTGGACAGCTCTTTCTGTAAAACCCAGACCACCCCTCCCCGTACCCCCCATTTTATGCAAAGTGGTATAAATAACAACTGCCCAGCCTCCCTCATGAGAGCCTGAGTGGAAATTACAAACATGGTCGTGATAAATATAGGGGCTACTGGCGTTTCATCTCAGAAGTGACCTCATTGAACTGGATGCACTGTGTTTAAGGCCACAGGGAGGGAGACGCTAGGAAAGATGCCTGAGGCTGGGAACGGTGGCGTTTACCTGAGGACCAGGCGGACCCCTTTCACCAGCTTTTCCAGGTTTTCCAGCTTCACCCTGAAGGGAGAGAGAGAGATATCCCAGCTTCCTCAGAGACGCAGTAGCATAGTGGGGGCACCCCAGAGGGCTTCCCTCCTTCCAGCCCTCCATGCCTTTGCCTACCGGCTCACTCATCTCCCTCACCTCCTTCAGACTCCACGTGCCTGGATGCCTTTCATGGGTCACCATTTATTCTTTTGGACACATGCATAGCCCATGGGCAAGCTCCTCTGTCCTCACCAGCCTCCAACTTCCCCTGAGAGGCTTTTTCTCTCCTCTCCTAGGTTCTGCTGACTGTATGTGCTCTCTCTAACCTCAAGAGACTTTTACTGTCTAATGCAATTCATAAAAATAGCACAAGAGTGCCAATTCTTGTCTCTTCATTTCGTTTGCATCCTTTGTAGACATCCTGACTCAGGCTGTGCTTTTTCTAACTCATTTACAATTAAGATAATGCTGGGTTGTTGAACGCTTCTTTCTTTGTTTTTCCTTCTCTACATCTTTCTGCCTTGTATTTTTTCTCTCCCTTCTCTCATTTCTCAATTTCCCTTCCTGGGGCTAATGATGTTTTAATTATTTGTCTTCCCCTTGGATCCAAAGCGGTCCCCAGGGAACTTGCCAGCACAGTCACAGTGGCCATATAGATAGGAGATGGCGTCAGGGTTTGGGACTGCCCAGTCTTGCTCCTCAAGATACCTCCACCCTGGGTGCCTCCCTGTCACTCCCCAAGCACACACCCTCTCCAGGCCCTTTCAAAGGAGGCAGCTCCTCATTTGTCTACTCGTGTATACTCACATCATCACCAGGCTTTCCAGGGGGACCAGGAGGACCACGGGGACCCATGGGACCCTACAAACAAAGGAAGATAGTTTAAGAGATGGTTATAGTGGGAAGACACCTAAGCAATGGACAAAACTTTGACATTGTAGTTTTGGAAGCCAGTTCTTCTATGAAGAAGAAAGATGGGAAGGTCAGAGCAAAGGTGCAGAGATCATAGTGGGACGCAGCAGATAGCACAGGCTGGGGTGACCCGGAAAGGGGGCTGTTAGGACAGAGTCCCTGGTGGTCCTTGCCACATTGGGCTGTCTGTCAGAGTTCCTCCACAGCTAGGAAGTGACATCCGAATTTCCTTGGGGCCACCGACTGTGGGAAAGAGCTGGGCAGAGCCTGGGAGGGACAGCAGCTGCGGTCCTAGTGGTCTATCATTAGAGGCTCCCCCAGAGAAGGGACAGGGCCGTGCTGGTACTCACAGAGACACCAGGTTCACCAGGTTCACCAGGATTGCCTTGAAATCCTTGAGGCCCCTAAAAAGTAAAATGAGGATACCAGGTCAATCCCTATAAACTGCTAAAACATCATAGTGCTTGGGAATCATCTGCGACACGATGGAGGCAAAAAGAATTGCAGATACTTACAGGAGCACCTGCAGGGCCTGGAGGTCCTCGAGGTCCCATGGGGCCCTGCATCGGAACAGAAAATGAGGGGTTTACTACACATGCTTCCTCAGTGGCCTCCAGTGTGCCATCTTCTCCCAGCCAACAGCCCGGGCAAAGGACAAGAAGTTACTCTGTGGGCAAGGGGCCTAGAGTGGCTGCTCCCTCTCATTTCCCACTCCCCACGCAACACTCT
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Task1_train_17498
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Gene COL2A1 (collagen type II alpha 1 chain), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Achondrogenesis type II
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GAGTGAAGCTGCTTTATTTTGGCCAGCCCTGCAAGGACCTGTGAGGAGGGGCCTCAGAGCTTGGGTGTTGGGGGTATGAAATCAGCAGAAAGCATAATCTTTCTTAAACACAGCTTTCATCGCATCACTCGCCTGACCAAGTGCCTACAAGGACTCTCTATTGCTAAGGAATCAGAGCTAAACGCCTCTGTCTGGCACCCTGCACCCTCCATCAGCTGCCAATCCCCTCACCCTTAATTTCCCACATTAACTAGAGGCCACCAGAGTCTAAGGCTGCAAGGCACTATTTATCTTAAGCTATTTCACCTTTCTGTGTCTCGGTTTTTTCATCCGTAAAATGGGGAGAAGAATAGAACCACCTCTCAGGATATGGAGGAAGATGAGATGAAGTAAAGCATATAGGGTATTAAACACAGGAAGTGCCTATGGAATGGTGGCCCCTGGTACTATAGCATAACATCCCTCACAGCAGCAGCCAGCATAGAGCCCTGTGAGTTGATGCTCACCTGTTCCACTTTTCTAGGGCATTTGAGCAACCAGGAAGAACAGAGAGTAGCACGGTGGTGCTATAGCCAGCTAAGTCTGTCTGTAAACTCCAGCTGGATTGCCCAGGGAGTGGGTGGTGGTTGTTGAAGGGATTACCTGATAATCTGGACTGGTTAAGAGAATCATGCTTTCACCCATCGACCCTCCCATTCCTATCCTTCCTCCTTCAACTGTGCAGACTCAGCCTGGGAAGTTTTGATGGGCACACTGGGGGTGAATTCTTAAGGGATAACAATACTCCCTATGCCTCACAGGGTTGTTTCGAGGGTCAAGAGAAACAAACCTGTAAACTCTAAAGTGCTCGGCAAATGGTGGTGTTTGGCTTTGTCAATTACTCACCGCAGCGCCAGCAGGGCCAGTCCGTCCTCTTTCACCAGGCAGGCCACGAGGACCCTGGAACACACACCAGGACAGCCTAAGCATGAGTTGGCTTTACGGTGCTCAGGGTGACCATTTCTACCTGCAGGCCCTTTGCGGATACCAGAGGAGAGGGAGGATGCCCACACCCAGGAAAACAAGGACCTCCTGATGGTGCTGGCTCCTTGACTAGCCAGGATGCCTCAGATCACACCCAACAGTTTTCTCCACAGGCGGAACACACGAATGTTCCTGTTGCTACCTATTGGGAACCTTTGTTACAAGCACACCTTGCTCCTTGCAGTAGATGAGCTTGACAAAATGTTGAGACTCAACAGAATTTTTTTAAATGGGAGCATCTTTAGTGTGATAAAATGGGTATCTTAAGGAAATGTTGGTGAAATCTTGAACAAATCATCTGTCTAATACATTTTGCTTTTTGCTCACAATCAGATGAAATCTACAACACAGAATATGAACTTTGCACAAAGGGAGCTCTTTGCAGCCATCTGATAGTCTGAAGAGTCTTTGATAAACCTTCCTGGAGGGTGTCCATACTTACCATTGGGCCCGGAGATCCGTTCTCACCCGGGGAACCACTCTCACCCTGGAAAAATGATGCACAAGGTCAGTGTCTGGGACCCCATTCTTGGCCGCCAGCAAACTCCTAGGGAAGACGCCAAAAGCCCTGGTCATCTCAGCTCGCACTGACACAAACTTCAGTCCTGTGAGGGACAATGCCCTGAGCTCTCCAGGCCTGCTGTTGGCCCATCAGGATGTAGGGCTGGTGTTCCCAGCCAAGGCTGTTCTGAGGAGCTAGTTCCACTGAGCTCCACAGTGTCTCCCTGGCTAGGAAGAGGGGCTCCTCATTGTCTCCCTCCTCCCCATCCCATTGTACTTTCTGGCCTCTCACCTTCACACCAGGAGCACCCGCCTCTCCCTTAGCACCGTCCAGGCCTGGATAACCCTAGGGAACAAGAGAAAATGTTCAATCAGACTTCTGGGAAACCCAAGTTGGAAGAAATGCACGCACCCCAAAGTGCTTTTCTCTCCCACCAGGCATCTCTTCCTTCCAACCTTCTCACCCGTGATACTTACTCTGTGACCTTTGACACCAGGAAGGCCTGGGGTTCCTGGGAAACCACGAGCACCCTGCAATCCAAAGTGGAGGTGTTCAGAGCACAGAGTAAAATAACAGTGGAAAGCTGCCCTGGGCTGCAGGAGGGCCTCCAGTTCCCTTGGGCCACCAGGGCGTTGTCTCGAATCCCCACACTTGGACAGCTCTTTCTGTAAAACCCAGACCACCCCTCCCCGTACCCCCCATTTTATGCAAAGTGGTATAAATAACAACTGCCCAGCCTCCCTCATGAGAGCCTGAGTGGAAATTACAAACATGGTCGTGATAAATATAGGGGCTACTGGCGTTTCATCTCAGAAGTGACCTCATTGAACTGGATGCACTGTGTTTAAGGCCACAGGGAGGGAGACGCTAGGAAAGATGCCTGAGGCTGGGAACGGTGGCGTTTACCTGAGGACCAGGCGGACCCCTTTCACCAGCTTTTCCAGGTTTTCCAGCTTCACCCTGAAGGGAGAGAGAGAGATATCCCAGCTTCCTCAGAGACGCAGTAGCATAGTGGGGGCACCCCAGAGGGCTTCCCTCCTTCCAGCCCTCCATGCCTTTGCCTACCGGCTCACTCATCTCCCTCACCTCCTTCAGACTCCACGTGCCTGGATGCCTTTCATGGGTCACCATTTATTCTTTTGGACACATGCATAGCCCATGGGCAAGCTCCTCTGTCCTCACCAGCCTCCAACTTCCCCTGAGAGGCTTTTTCTCTCCTCTCCTAGGTTCTGCTGACTGTATGTGCTCTCTCTAACCTCAAGAGACTTTTACTGTCTAATGCAATTCATAAAAATAGCACAAGAGTGCCAATTCTTGTCTCTTCATTTCGTTTGCATCCTTTGTAGACATCCTGACTCAGGCTGTGCTTTTTCTAACTCATTTACAATTAAGATAATGCTGGGTTGTTGAACGCTTCTTTCTTTGTTTTTCCTTCTCTACATCTTTCTGCCTTGTATTTTTTCTCTCCCTTCTCTCATTTCTCAATTTCCCTTCCTGGGGCTAATGATGTTTTAATTATTTGTCTTCCCCTTGGATCCAAAGCGGTCCCCAGGGAACTTGCCAGCACAGTCACAGTGGCCATATAGATAGGAGATGGCGTCAGGGTTTGGGACTGCCCAGTCTTGCTCCTCAAGATACCTCCACCCTGGGTGCCTCCCTGTCACTCCCCAAGCACACACCCTCTCCAGGCCCTTTCAAAGGAGGCAGCTCCTCATTTGTCTACTCGTGTATACTCACATCATCACCAGGCTTTCCAGGGGGACCAGGAGGACCACGGGGACCCATGGGACCCTACAAACAAAGGAAGATAGTTTAAGAGATGGTTATAGTGGGAAGACACCTAAGCAATGGACAAAACTTTGACATTGTAGTTTTGGAAGCCAGTTCTTCTATGAAGAAGAAAGATGGGAAGGTCAGAGCAAAGGTGCAGAGATCATAGTGGGACGCAGCAGATAGCACAGGCTGGGGTGACCCGGAAAGGGGGCTGTTAGGACAGAGTCCCTGGTGGTCCTTGCCACATTGGGCTGTCTGTCAGAGTTCCTCCACAGCTAGGAAGTGACATCCGAATTTCCTTGGGGCCACCGACTGTGGGAAAGAGCTGGGCAGAGCCTGGGAGGGACAGCAGCTGCGGTCCTAGTGGTCTATCATTAGAGGCTCCCCCAGAGAAGGGACAGGGCCGTGCTGGTACTCACAGAGACACCAGGTTCACCAGGTTCACCAGGATTGCCTTGAAATCCTTGAGGCCCCTAAAAAGTAAAATGAGGATACCAGGTCAATCCCTATAAACTGCTAAAACATCATAGTGCTTGGGAATCATCTGCGACACGATGGAGGCAAAAAGAATTGCAGATACTTACAGGAGCACCTGCAGGGCCTGGAGGTCCTCGAGGTCCCATGGGGCCCTGCATCGGAACAGAAAATGAGGGGTTTACTACACATGCTTCCTCAGTGGCCTCCAGTGTGCCATCTTCTCCCAGCCAACAGCCCGGGCAAAGGACAAGAAGTTACTCTGTGGGCAAGGGGCCTAGAGTGGCTGCTCCCTCTCATTTCCCACTCCCCACGCAACACTCT
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GAGTGAAGCTGCTTTATTTTGGCCAGCCCTGCAAGGACCTGTGAGGAGGGGCCTCAGAGCTTGGGTGTTGGGGGTATGAAATCAGCAGAAAGCATAATCTTTCTTAAACACAGCTTTCATCGCATCACTCGCCTGACCAAGTGCCTACAAGGACTCTCTATTGCTAAGGAATCAGAGCTAAACGCCTCTGTCTGGCACCCTGCACCCTCCATCAGCTGCCAATCCCCTCACCCTTAATTTCCCACATTAACTAGAGGCCACCAGAGTCTAAGGCTGCAAGGCACTATTTATCTTAAGCTATTTCACCTTTCTGTGTCTCGGTTTTTTCATCCGTAAAATGGGGAGAAGAATAGAACCACCTCTCAGGATATGGAGGAAGATGAGATGAAGTAAAGCATATAGGGTATTAAACACAGGAAGTGCCTATGGAATGGTGGCCCCTGGTACTATAGCATAACATCCCTCACAGCAGCAGCCAGCATAGAGCCCTGTGAGTTGATGCTCACCTGTTCCACTTTTCTAGGGCATTTGAGCAACCAGGAAGAACAGAGAGTAGCACGGTGGTGCTATAGCCAGCTAAGTCTGTCTGTAAACTCCAGCTGGATTGCCCAGGGAGTGGGTGGTGGTTGTTGAAGGGATTACCTGATAATCTGGACTGGTTAAGAGAATCATGCTTTCACCCATCGACCCTCCCATTCCTATCCTTCCTCCTTCAACTGTGCAGACTCAGCCTGGGAAGTTTTGATGGGCACACTGGGGGTGAATTCTTAAGGGATAACAATACTCCCTATGCCTCACAGGGTTGTTTCGAGGGTCAAGAGAAACAAACCTGTAAACTCTAAAGTGCTCGGCAAATGGTGGTGTTTGGCTTTGTCAATTACTCACCGCAGCGCCAGCAGGGCCAGTCCGTCCTCTTTCACCAGGCAGGCCACGAGGACCCTGGAACACACACCAGGACAGCCTAAGCATGAGTTGGCTTTACGGTGCTCAGGGTGACCATTTCTACCTGCAGGCCCTTTGCGGATACCAGAGGAGAGGGAGGATGCCCACACCCAGGAAAACAAGGACCTCCTGATGGTGCTGGCTCCTTGACTAGCCAGGATGCCTCAGATCACACCCAACAGTTTTCTCCACAGGCGGAACACACGAATGTTCCTGTTGCTACCTATTGGGAACCTTTGTTACAAGCACACCTTGCTCCTTGCAGTAGATGAGCTTGACAAAATGTTGAGACTCAACAGAATTTTTTTAAATGGGAGCATCTTTAGTGTGATAAAATGGGTATCTTAAGGAAATGTTGGTGAAATCTTGAACAAATCATCTGTCTAATACATTTTGCTTTTTGCTCACAATCAGATGAAATCTACAACACAGAATATGAACTTTGCACAAAGGGAGCTCTTTGCAGCCATCTGATAGTCTGAAGAGTCTTTGATAAACCTTCCTGGAGGGTGTCCATACTTACCATTGGGCCCGGAGATCCGTTCTCACCCGGGGAACCACTCTCACCCTGGAAAAATGATGCACAAGGTCAGTGTCTGGGACCCCATTCTTGGCCGCCAGCAAACTCCTAGGGAAGACGCCAAAAGCCCTGGTCATCTCAGCTCGCACTGACACAAACTTCAGTCCTGTGAGGGACAATGCCCTGAGCTCTCCAGGCCTGCTGTTGGCCCATCAGGATGTAGGGCTGGTGTTCCCAGCCAAGGCTGTTCTGAGGAGCTAGTTCCACTGAGCTCCACAGTGTCTCCCTGGCTAGGAAGAGGGGCTCCTCATTGTCTCCCTCCTCCCCATCCCATTGTACTTTCTGGCCTCTCACCTTCACACCAGGAGCACCCGCCTCTCCCTTAGCACCGTCCAGGCCTGGATAACCCTAGGGAACAAGAGAAAATGTTCAATCAGACTTCTGGGAAACCCAAGTTGGAAGAAATGCACGCACCCCAAAGTGCTTTTCTCTCCCACCAGGCATCTCTTCCTTCCAACCTTCTCACCCGTGATACTTACTCTGTGACCTTTGACACCAGGAAGGCCTGGGGTTCCTGGGAAACCACAAGCACCCTGCAATCCAAAGTGGAGGTGTTCAGAGCACAGAGTAAAATAACAGTGGAAAGCTGCCCTGGGCTGCAGGAGGGCCTCCAGTTCCCTTGGGCCACCAGGGCGTTGTCTCGAATCCCCACACTTGGACAGCTCTTTCTGTAAAACCCAGACCACCCCTCCCCGTACCCCCCATTTTATGCAAAGTGGTATAAATAACAACTGCCCAGCCTCCCTCATGAGAGCCTGAGTGGAAATTACAAACATGGTCGTGATAAATATAGGGGCTACTGGCGTTTCATCTCAGAAGTGACCTCATTGAACTGGATGCACTGTGTTTAAGGCCACAGGGAGGGAGACGCTAGGAAAGATGCCTGAGGCTGGGAACGGTGGCGTTTACCTGAGGACCAGGCGGACCCCTTTCACCAGCTTTTCCAGGTTTTCCAGCTTCACCCTGAAGGGAGAGAGAGAGATATCCCAGCTTCCTCAGAGACGCAGTAGCATAGTGGGGGCACCCCAGAGGGCTTCCCTCCTTCCAGCCCTCCATGCCTTTGCCTACCGGCTCACTCATCTCCCTCACCTCCTTCAGACTCCACGTGCCTGGATGCCTTTCATGGGTCACCATTTATTCTTTTGGACACATGCATAGCCCATGGGCAAGCTCCTCTGTCCTCACCAGCCTCCAACTTCCCCTGAGAGGCTTTTTCTCTCCTCTCCTAGGTTCTGCTGACTGTATGTGCTCTCTCTAACCTCAAGAGACTTTTACTGTCTAATGCAATTCATAAAAATAGCACAAGAGTGCCAATTCTTGTCTCTTCATTTCGTTTGCATCCTTTGTAGACATCCTGACTCAGGCTGTGCTTTTTCTAACTCATTTACAATTAAGATAATGCTGGGTTGTTGAACGCTTCTTTCTTTGTTTTTCCTTCTCTACATCTTTCTGCCTTGTATTTTTTCTCTCCCTTCTCTCATTTCTCAATTTCCCTTCCTGGGGCTAATGATGTTTTAATTATTTGTCTTCCCCTTGGATCCAAAGCGGTCCCCAGGGAACTTGCCAGCACAGTCACAGTGGCCATATAGATAGGAGATGGCGTCAGGGTTTGGGACTGCCCAGTCTTGCTCCTCAAGATACCTCCACCCTGGGTGCCTCCCTGTCACTCCCCAAGCACACACCCTCTCCAGGCCCTTTCAAAGGAGGCAGCTCCTCATTTGTCTACTCGTGTATACTCACATCATCACCAGGCTTTCCAGGGGGACCAGGAGGACCACGGGGACCCATGGGACCCTACAAACAAAGGAAGATAGTTTAAGAGATGGTTATAGTGGGAAGACACCTAAGCAATGGACAAAACTTTGACATTGTAGTTTTGGAAGCCAGTTCTTCTATGAAGAAGAAAGATGGGAAGGTCAGAGCAAAGGTGCAGAGATCATAGTGGGACGCAGCAGATAGCACAGGCTGGGGTGACCCGGAAAGGGGGCTGTTAGGACAGAGTCCCTGGTGGTCCTTGCCACATTGGGCTGTCTGTCAGAGTTCCTCCACAGCTAGGAAGTGACATCCGAATTTCCTTGGGGCCACCGACTGTGGGAAAGAGCTGGGCAGAGCCTGGGAGGGACAGCAGCTGCGGTCCTAGTGGTCTATCATTAGAGGCTCCCCCAGAGAAGGGACAGGGCCGTGCTGGTACTCACAGAGACACCAGGTTCACCAGGTTCACCAGGATTGCCTTGAAATCCTTGAGGCCCCTAAAAAGTAAAATGAGGATACCAGGTCAATCCCTATAAACTGCTAAAACATCATAGTGCTTGGGAATCATCTGCGACACGATGGAGGCAAAAAGAATTGCAGATACTTACAGGAGCACCTGCAGGGCCTGGAGGTCCTCGAGGTCCCATGGGGCCCTGCATCGGAACAGAAAATGAGGGGTTTACTACACATGCTTCCTCAGTGGCCTCCAGTGTGCCATCTTCTCCCAGCCAACAGCCCGGGCAAAGGACAAGAAGTTACTCTGTGGGCAAGGGGCCTAGAGTGGCTGCTCCCTCTCATTTCCCACTCCCCACGCAACACTCT
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Task1_train_17499
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This gene mutation involves COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Acetabular dysplasia
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GAGTGAAGCTGCTTTATTTTGGCCAGCCCTGCAAGGACCTGTGAGGAGGGGCCTCAGAGCTTGGGTGTTGGGGGTATGAAATCAGCAGAAAGCATAATCTTTCTTAAACACAGCTTTCATCGCATCACTCGCCTGACCAAGTGCCTACAAGGACTCTCTATTGCTAAGGAATCAGAGCTAAACGCCTCTGTCTGGCACCCTGCACCCTCCATCAGCTGCCAATCCCCTCACCCTTAATTTCCCACATTAACTAGAGGCCACCAGAGTCTAAGGCTGCAAGGCACTATTTATCTTAAGCTATTTCACCTTTCTGTGTCTCGGTTTTTTCATCCGTAAAATGGGGAGAAGAATAGAACCACCTCTCAGGATATGGAGGAAGATGAGATGAAGTAAAGCATATAGGGTATTAAACACAGGAAGTGCCTATGGAATGGTGGCCCCTGGTACTATAGCATAACATCCCTCACAGCAGCAGCCAGCATAGAGCCCTGTGAGTTGATGCTCACCTGTTCCACTTTTCTAGGGCATTTGAGCAACCAGGAAGAACAGAGAGTAGCACGGTGGTGCTATAGCCAGCTAAGTCTGTCTGTAAACTCCAGCTGGATTGCCCAGGGAGTGGGTGGTGGTTGTTGAAGGGATTACCTGATAATCTGGACTGGTTAAGAGAATCATGCTTTCACCCATCGACCCTCCCATTCCTATCCTTCCTCCTTCAACTGTGCAGACTCAGCCTGGGAAGTTTTGATGGGCACACTGGGGGTGAATTCTTAAGGGATAACAATACTCCCTATGCCTCACAGGGTTGTTTCGAGGGTCAAGAGAAACAAACCTGTAAACTCTAAAGTGCTCGGCAAATGGTGGTGTTTGGCTTTGTCAATTACTCACCGCAGCGCCAGCAGGGCCAGTCCGTCCTCTTTCACCAGGCAGGCCACGAGGACCCTGGAACACACACCAGGACAGCCTAAGCATGAGTTGGCTTTACGGTGCTCAGGGTGACCATTTCTACCTGCAGGCCCTTTGCGGATACCAGAGGAGAGGGAGGATGCCCACACCCAGGAAAACAAGGACCTCCTGATGGTGCTGGCTCCTTGACTAGCCAGGATGCCTCAGATCACACCCAACAGTTTTCTCCACAGGCGGAACACACGAATGTTCCTGTTGCTACCTATTGGGAACCTTTGTTACAAGCACACCTTGCTCCTTGCAGTAGATGAGCTTGACAAAATGTTGAGACTCAACAGAATTTTTTTAAATGGGAGCATCTTTAGTGTGATAAAATGGGTATCTTAAGGAAATGTTGGTGAAATCTTGAACAAATCATCTGTCTAATACATTTTGCTTTTTGCTCACAATCAGATGAAATCTACAACACAGAATATGAACTTTGCACAAAGGGAGCTCTTTGCAGCCATCTGATAGTCTGAAGAGTCTTTGATAAACCTTCCTGGAGGGTGTCCATACTTACCATTGGGCCCGGAGATCCGTTCTCACCCGGGGAACCACTCTCACCCTGGAAAAATGATGCACAAGGTCAGTGTCTGGGACCCCATTCTTGGCCGCCAGCAAACTCCTAGGGAAGACGCCAAAAGCCCTGGTCATCTCAGCTCGCACTGACACAAACTTCAGTCCTGTGAGGGACAATGCCCTGAGCTCTCCAGGCCTGCTGTTGGCCCATCAGGATGTAGGGCTGGTGTTCCCAGCCAAGGCTGTTCTGAGGAGCTAGTTCCACTGAGCTCCACAGTGTCTCCCTGGCTAGGAAGAGGGGCTCCTCATTGTCTCCCTCCTCCCCATCCCATTGTACTTTCTGGCCTCTCACCTTCACACCAGGAGCACCCGCCTCTCCCTTAGCACCGTCCAGGCCTGGATAACCCTAGGGAACAAGAGAAAATGTTCAATCAGACTTCTGGGAAACCCAAGTTGGAAGAAATGCACGCACCCCAAAGTGCTTTTCTCTCCCACCAGGCATCTCTTCCTTCCAACCTTCTCACCCGTGATACTTACTCTGTGACCTTTGACACCAGGAAGGCCTGGGGTTCCTGGGAAACCACGAGCACCCTGCAATCCAAAGTGGAGGTGTTCAGAGCACAGAGTAAAATAACAGTGGAAAGCTGCCCTGGGCTGCAGGAGGGCCTCCAGTTCCCTTGGGCCACCAGGGCGTTGTCTCGAATCCCCACACTTGGACAGCTCTTTCTGTAAAACCCAGACCACCCCTCCCCGTACCCCCCATTTTATGCAAAGTGGTATAAATAACAACTGCCCAGCCTCCCTCATGAGAGCCTGAGTGGAAATTACAAACATGGTCGTGATAAATATAGGGGCTACTGGCGTTTCATCTCAGAAGTGACCTCATTGAACTGGATGCACTGTGTTTAAGGCCACAGGGAGGGAGACGCTAGGAAAGATGCCTGAGGCTGGGAACGGTGGCGTTTACCTGAGGACCAGGCGGACCCCTTTCACCAGCTTTTCCAGGTTTTCCAGCTTCACCCTGAAGGGAGAGAGAGAGATATCCCAGCTTCCTCAGAGACGCAGTAGCATAGTGGGGGCACCCCAGAGGGCTTCCCTCCTTCCAGCCCTCCATGCCTTTGCCTACCGGCTCACTCATCTCCCTCACCTCCTTCAGACTCCACGTGCCTGGATGCCTTTCATGGGTCACCATTTATTCTTTTGGACACATGCATAGCCCATGGGCAAGCTCCTCTGTCCTCACCAGCCTCCAACTTCCCCTGAGAGGCTTTTTCTCTCCTCTCCTAGGTTCTGCTGACTGTATGTGCTCTCTCTAACCTCAAGAGACTTTTACTGTCTAATGCAATTCATAAAAATAGCACAAGAGTGCCAATTCTTGTCTCTTCATTTCGTTTGCATCCTTTGTAGACATCCTGACTCAGGCTGTGCTTTTTCTAACTCATTTACAATTAAGATAATGCTGGGTTGTTGAACGCTTCTTTCTTTGTTTTTCCTTCTCTACATCTTTCTGCCTTGTATTTTTTCTCTCCCTTCTCTCATTTCTCAATTTCCCTTCCTGGGGCTAATGATGTTTTAATTATTTGTCTTCCCCTTGGATCCAAAGCGGTCCCCAGGGAACTTGCCAGCACAGTCACAGTGGCCATATAGATAGGAGATGGCGTCAGGGTTTGGGACTGCCCAGTCTTGCTCCTCAAGATACCTCCACCCTGGGTGCCTCCCTGTCACTCCCCAAGCACACACCCTCTCCAGGCCCTTTCAAAGGAGGCAGCTCCTCATTTGTCTACTCGTGTATACTCACATCATCACCAGGCTTTCCAGGGGGACCAGGAGGACCACGGGGACCCATGGGACCCTACAAACAAAGGAAGATAGTTTAAGAGATGGTTATAGTGGGAAGACACCTAAGCAATGGACAAAACTTTGACATTGTAGTTTTGGAAGCCAGTTCTTCTATGAAGAAGAAAGATGGGAAGGTCAGAGCAAAGGTGCAGAGATCATAGTGGGACGCAGCAGATAGCACAGGCTGGGGTGACCCGGAAAGGGGGCTGTTAGGACAGAGTCCCTGGTGGTCCTTGCCACATTGGGCTGTCTGTCAGAGTTCCTCCACAGCTAGGAAGTGACATCCGAATTTCCTTGGGGCCACCGACTGTGGGAAAGAGCTGGGCAGAGCCTGGGAGGGACAGCAGCTGCGGTCCTAGTGGTCTATCATTAGAGGCTCCCCCAGAGAAGGGACAGGGCCGTGCTGGTACTCACAGAGACACCAGGTTCACCAGGTTCACCAGGATTGCCTTGAAATCCTTGAGGCCCCTAAAAAGTAAAATGAGGATACCAGGTCAATCCCTATAAACTGCTAAAACATCATAGTGCTTGGGAATCATCTGCGACACGATGGAGGCAAAAAGAATTGCAGATACTTACAGGAGCACCTGCAGGGCCTGGAGGTCCTCGAGGTCCCATGGGGCCCTGCATCGGAACAGAAAATGAGGGGTTTACTACACATGCTTCCTCAGTGGCCTCCAGTGTGCCATCTTCTCCCAGCCAACAGCCCGGGCAAAGGACAAGAAGTTACTCTGTGGGCAAGGGGCCTAGAGTGGCTGCTCCCTCTCATTTCCCACTCCCCACGCAACACTCT
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GAGTGAAGCTGCTTTATTTTGGCCAGCCCTGCAAGGACCTGTGAGGAGGGGCCTCAGAGCTTGGGTGTTGGGGGTATGAAATCAGCAGAAAGCATAATCTTTCTTAAACACAGCTTTCATCGCATCACTCGCCTGACCAAGTGCCTACAAGGACTCTCTATTGCTAAGGAATCAGAGCTAAACGCCTCTGTCTGGCACCCTGCACCCTCCATCAGCTGCCAATCCCCTCACCCTTAATTTCCCACATTAACTAGAGGCCACCAGAGTCTAAGGCTGCAAGGCACTATTTATCTTAAGCTATTTCACCTTTCTGTGTCTCGGTTTTTTCATCCGTAAAATGGGGAGAAGAATAGAACCACCTCTCAGGATATGGAGGAAGATGAGATGAAGTAAAGCATATAGGGTATTAAACACAGGAAGTGCCTATGGAATGGTGGCCCCTGGTACTATAGCATAACATCCCTCACAGCAGCAGCCAGCATAGAGCCCTGTGAGTTGATGCTCACCTGTTCCACTTTTCTAGGGCATTTGAGCAACCAGGAAGAACAGAGAGTAGCACGGTGGTGCTATAGCCAGCTAAGTCTGTCTGTAAACTCCAGCTGGATTGCCCAGGGAGTGGGTGGTGGTTGTTGAAGGGATTACCTGATAATCTGGACTGGTTAAGAGAATCATGCTTTCACCCATCGACCCTCCCATTCCTATCCTTCCTCCTTCAACTGTGCAGACTCAGCCTGGGAAGTTTTGATGGGCACACTGGGGGTGAATTCTTAAGGGATAACAATACTCCCTATGCCTCACAGGGTTGTTTCGAGGGTCAAGAGAAACAAACCTGTAAACTCTAAAGTGCTCGGCAAATGGTGGTGTTTGGCTTTGTCAATTACTCACCGCAGCGCCAGCAGGGCCAGTCCGTCCTCTTTCACCAGGCAGGCCACGAGGACCCTGGAACACACACCAGGACAGCCTAAGCATGAGTTGGCTTTACGGTGCTCAGGGTGACCATTTCTACCTGCAGGCCCTTTGCGGATACCAGAGGAGAGGGAGGATGCCCACACCCAGGAAAACAAGGACCTCCTGATGGTGCTGGCTCCTTGACTAGCCAGGATGCCTCAGATCACACCCAACAGTTTTCTCCACAGGCGGAACACACGAATGTTCCTGTTGCTACCTATTGGGAACCTTTGTTACAAGCACACCTTGCTCCTTGCAGTAGATGAGCTTGACAAAATGTTGAGACTCAACAGAATTTTTTTAAATGGGAGCATCTTTAGTGTGATAAAATGGGTATCTTAAGGAAATGTTGGTGAAATCTTGAACAAATCATCTGTCTAATACATTTTGCTTTTTGCTCACAATCAGATGAAATCTACAACACAGAATATGAACTTTGCACAAAGGGAGCTCTTTGCAGCCATCTGATAGTCTGAAGAGTCTTTGATAAACCTTCCTGGAGGGTGTCCATACTTACCATTGGGCCCGGAGATCCGTTCTCACCCGGGGAACCACTCTCACCCTGGAAAAATGATGCACAAGGTCAGTGTCTGGGACCCCATTCTTGGCCGCCAGCAAACTCCTAGGGAAGACGCCAAAAGCCCTGGTCATCTCAGCTCGCACTGACACAAACTTCAGTCCTGTGAGGGACAATGCCCTGAGCTCTCCAGGCCTGCTGTTGGCCCATCAGGATGTAGGGCTGGTGTTCCCAGCCAAGGCTGTTCTGAGGAGCTAGTTCCACTGAGCTCCACAGTGTCTCCCTGGCTAGGAAGAGGGGCTCCTCATTGTCTCCCTCCTCCCCATCCCATTGTACTTTCTGGCCTCTCACCTTCACACCAGGAGCACCCGCCTCTCCCTTAGCACCGTCCAGGCCTGGATAACCCTAGGGAACAAGAGAAAATGTTCAATCAGACTTCTGGGAAACCCAAGTTGGAAGAAATGCACGCACCCCAAAGTGCTTTTCTCTCCCACCAGGCATCTCTTCCTTCCAACCTTCTCACCCGTGATACTTACTCTGTGACCTTTGACACCAGGAAGGCCTGGGGTTCCTGGGAAACCACAAGCACCCTGCAATCCAAAGTGGAGGTGTTCAGAGCACAGAGTAAAATAACAGTGGAAAGCTGCCCTGGGCTGCAGGAGGGCCTCCAGTTCCCTTGGGCCACCAGGGCGTTGTCTCGAATCCCCACACTTGGACAGCTCTTTCTGTAAAACCCAGACCACCCCTCCCCGTACCCCCCATTTTATGCAAAGTGGTATAAATAACAACTGCCCAGCCTCCCTCATGAGAGCCTGAGTGGAAATTACAAACATGGTCGTGATAAATATAGGGGCTACTGGCGTTTCATCTCAGAAGTGACCTCATTGAACTGGATGCACTGTGTTTAAGGCCACAGGGAGGGAGACGCTAGGAAAGATGCCTGAGGCTGGGAACGGTGGCGTTTACCTGAGGACCAGGCGGACCCCTTTCACCAGCTTTTCCAGGTTTTCCAGCTTCACCCTGAAGGGAGAGAGAGAGATATCCCAGCTTCCTCAGAGACGCAGTAGCATAGTGGGGGCACCCCAGAGGGCTTCCCTCCTTCCAGCCCTCCATGCCTTTGCCTACCGGCTCACTCATCTCCCTCACCTCCTTCAGACTCCACGTGCCTGGATGCCTTTCATGGGTCACCATTTATTCTTTTGGACACATGCATAGCCCATGGGCAAGCTCCTCTGTCCTCACCAGCCTCCAACTTCCCCTGAGAGGCTTTTTCTCTCCTCTCCTAGGTTCTGCTGACTGTATGTGCTCTCTCTAACCTCAAGAGACTTTTACTGTCTAATGCAATTCATAAAAATAGCACAAGAGTGCCAATTCTTGTCTCTTCATTTCGTTTGCATCCTTTGTAGACATCCTGACTCAGGCTGTGCTTTTTCTAACTCATTTACAATTAAGATAATGCTGGGTTGTTGAACGCTTCTTTCTTTGTTTTTCCTTCTCTACATCTTTCTGCCTTGTATTTTTTCTCTCCCTTCTCTCATTTCTCAATTTCCCTTCCTGGGGCTAATGATGTTTTAATTATTTGTCTTCCCCTTGGATCCAAAGCGGTCCCCAGGGAACTTGCCAGCACAGTCACAGTGGCCATATAGATAGGAGATGGCGTCAGGGTTTGGGACTGCCCAGTCTTGCTCCTCAAGATACCTCCACCCTGGGTGCCTCCCTGTCACTCCCCAAGCACACACCCTCTCCAGGCCCTTTCAAAGGAGGCAGCTCCTCATTTGTCTACTCGTGTATACTCACATCATCACCAGGCTTTCCAGGGGGACCAGGAGGACCACGGGGACCCATGGGACCCTACAAACAAAGGAAGATAGTTTAAGAGATGGTTATAGTGGGAAGACACCTAAGCAATGGACAAAACTTTGACATTGTAGTTTTGGAAGCCAGTTCTTCTATGAAGAAGAAAGATGGGAAGGTCAGAGCAAAGGTGCAGAGATCATAGTGGGACGCAGCAGATAGCACAGGCTGGGGTGACCCGGAAAGGGGGCTGTTAGGACAGAGTCCCTGGTGGTCCTTGCCACATTGGGCTGTCTGTCAGAGTTCCTCCACAGCTAGGAAGTGACATCCGAATTTCCTTGGGGCCACCGACTGTGGGAAAGAGCTGGGCAGAGCCTGGGAGGGACAGCAGCTGCGGTCCTAGTGGTCTATCATTAGAGGCTCCCCCAGAGAAGGGACAGGGCCGTGCTGGTACTCACAGAGACACCAGGTTCACCAGGTTCACCAGGATTGCCTTGAAATCCTTGAGGCCCCTAAAAAGTAAAATGAGGATACCAGGTCAATCCCTATAAACTGCTAAAACATCATAGTGCTTGGGAATCATCTGCGACACGATGGAGGCAAAAAGAATTGCAGATACTTACAGGAGCACCTGCAGGGCCTGGAGGTCCTCGAGGTCCCATGGGGCCCTGCATCGGAACAGAAAATGAGGGGTTTACTACACATGCTTCCTCAGTGGCCTCCAGTGTGCCATCTTCTCCCAGCCAACAGCCCGGGCAAAGGACAAGAAGTTACTCTGTGGGCAAGGGGCCTAGAGTGGCTGCTCCCTCTCATTTCCCACTCCCCACGCAACACTCT
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Subsets and Splits
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